Diagnosing Pain Syndromes: A Pep Talk

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Welcome back to Left on Longwood! Since I last posted, the left turn has taken me all of the way to the Left Coast. Much news: in addition to completing my fellowship and starting my new position as pediatric rheumatologist at Children’s Hospital of Orange County in Southern California, I’m pleased to welcome rheum school. Rheum school is a blog for students of pediatric rheumatology (residents, fellows, attendings etc) that grew out of conversations with Mindy Lo and Jonathan Hausmann, friends and colleagues in Boston. Rheum school is already off to a great start, including updates on the recent American College of Rheumatology meeting in DC. I’ll look forward to being a contributor. Below is my first post for rheum school: some thoughts on diagnosing pain syndromes.

I’ve been thinking quite a bit about pain syndromes lately. Perhaps you have as well? No doubt, diagnosing a pain amplification syndrome once (or four times!) a day will have that effect. As a newly minted attending pediatric rheumatologist, I would imagine that this recent experience is not unusual. As I work my way through our program’s back log of heavily-triaged “non-urgent” new patient referrals, I’m encountering patients with a dizzying array of symptomatology and the single unifying diagnosis that we all know well. The David Sherry RND patient education handouts are flying off the shelves as fast as I can print them.

As I prepare to knock on the exam room door of a new patient whose records fairly scream the diagnosis, I’ve been refining two pep talks: one for the patients/families and one for me. I’ll do my best to share the latter one with you here.

 Diagnosing Pain Syndromes Requires Clinical Acumen

By the time they make their way to our clinics or inpatient floors, patients with pain syndromes have seen many doctors and have been subjected to extensive testing. And yet they remain undiagnosed! Other physicians have heard the story, examined the patient, ordered work-ups and have been unable to make a diagnosis. You are about to do what they lacked the clinical acumen (patience or courage) to do: unravel a medical mystery as challenging as that of a rare autoimmune or inflammatory disease.

The referral packet (look at it, bulging there on the table!) is bloated with third and fourth-order imaging, laboratory and diagnostic procedures done to rule out this-or-that. It takes a great deal of medical knowledge, judgment and time to read through that intimidating and confused pile of reports and interpret so much varied testing accurately, always with the clinical context in mind. Every one of these patients teaches us important lessons in decision analysis, or what I like to call test logic.  Their stories remind us that ordering tests in the inappropriate clinical context with low pre-test index of suspicion has little diagnostic value and the darndest consequences.

I have been trying to bring out this concept for the residents and fellows who have accompanied me on my recent forays into pain syndrome diagnosis. Of course, the ANA and most tests in medicine have lousy performance when sent in the wrong clinical context. The less experienced clinicians who are spending time with you don’t understand this and need to learn it from you. Every physician needs to learn how to select testing based on the context, consider potential results and look ahead to how that information will help lead to a diagnosis and treatment recommendation. Absolutely, this is an opportunity to teach test logic, to reinforce the concepts of sensitivity, specificity, predictive value. These physicians-in-training are extremely fortunate to be able to learn this with you today. The experience of seeing a pain syndrome patient and hearing about their medical testing history might just give life to those abstract concepts and make the lesson stick.

 Diagnosing Pain Syndromes Requires Confidence

Telling a family that other physicians have diagnosed with various frightening diseases that they do not have a terrible disease takes enormous confidence. Since so many possible alternate diagnoses have been considered, the diagnoser of a pain syndrome, in effect, passes judgment over the other diagnoses, dismissing them one by one. The diagnoser puts all of the data into context, provides a radically new explicative pathophysiology and confidently accounts for the etiology of all of the symptoms. Confidence. This is the kind of confidence that comes from Jedi-knight level diagnostic, perceptive and interpersonal skills. Ever notice that our most revered senior colleagues, the people that make us well up with pride to be pediatric rheumatologists when we think of them, are so skilled at diagnosing pain syndromes? Not coincidence.

 Diagnosing Pain Syndromes Requires Courage

In the most challenging pain syndrome cases (you’ve been there), many layers of confusion, fear and frustration self-reinforce an alternate reality. When we meet with these families and learn of their stories, we feel the strong pull of that vortex of confusion. We can become disoriented, the horizon can be lost. Our courage is tested.

The easy out, the option chosen by many of our colleagues in other disciplines, would be to send “our tests,” rule out “our diseases” and then pass the patient/family on to the next specialist to continue the cycle. Most doctors do this, but not pediatric rheumatologists. We should be enormously proud that as pediatric rheumatologists we do not engage in this kind of can-kicking. Instead, we speak truth to the confusion, at times, even to outright lies. This requires conviction that it is worth the time and the energy to actually address the patient’s problems in front of you rather than cowardly elect to punt. This requires hope that our recommendations will help people to get better, prevent disrupted lives from becoming ruined ones and stop irresponsible consumption of health care resources. This requires soulful listening, compassion and humor. This requires courage.

Hone skills. Build confidence. Take courage. Go forth and diagnose pain syndromes!

How to Make an Atomic Bomb?

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The debate regarding the publication of research describing the transmission of strains of the H5N1 avian influenza virus in laboratory ferrets is the latest episode in the controversy regarding “dual-use” science. How should governments, agencies and society approach scientific research that has the potential for public good but could be harmful if used inappropriately?

It is hardly a new question. The history of 20th century science is dominated by how discoveries in nuclear physics led the way to transformative technologies, groundbreaking advancements in understanding the universe and the development of devastating weapons on a scale not previously imagined.  Fukushima and the lingering fear of nuclear terrorism by rouge states or border-less terror networks remind us that harm can potentially result from the legitimate or illegitimate use of nuclear technology.

 A Story

In the months after 9/11, my med school buddy was boarding a domestic flight. D. is a brilliant physician-scientist, at the time he was deeply immersed in his PhD research in the field of apoptosis (the process of “programmed cell death”). He looked the part of a graduate student (and still does): goatee, specs, fleece, jeans, trail-worthy footwear, bike messenger bag. I should also mention that he is a Southeast Asian American, a self-described “brown guy.” D. was already very much accustomed to extra attention at the airport, long before the advent of TSA and that machine that we stand in with our hands held above our heads. He pretty much expected to be pulled out of the security line for a manual bag check and wand pat-down.

As he approached the metal detector, D. had a moment of panic. Tucked away in his carry-on was “The Making of the Atomic Bomb,” Richard Rhodes’ definitive history of the Manhattan Project. As proof that it is an amazing book, Professor Roy Glauber, who worked on the Manhattan project as an 18-year old and went on to share the 2005 Nobel Prize in Physics, used it and its sequel on the hydrogen bomb project as the only texts for his freshman seminar that I was fortunate to take (his great autobiographical piece is here).  Being enthralled by a tale of scientific discovery and engaged with the relationship of science and society, D. couldn’t wait to get to his in-flight reading. Now he realized that with the glossy insert photographs and diagrams, the “Making of…” could potentially be misinterpreted as “How to make an atomic bomb.”

Moments later, the contents of his carry-on dumped out on the table, D is trying to explain the difference between historical study and assembly manual to the wide-eyed security agent flipping through the pages. A supervisor was summoned. He ended up being allowed to board just in time. I’m trying to remember from D.’s most recent dramatic telling (he tells it well) whether or not the suspicious book was confiscated.

“Dual-use” and Biomedical Science

Long before the debate over stem cell research, molecular biology ran into its own crucial “dual-use” decision point. With the deciphering of the genetic code and the development of the techniques needed to work with DNA, biology was perched on the edge of revolutionary change in the mid ‘70s. With the fall of Saigon approaching and in the aftermath of Watergate, the national moment was one of unprecedented distrust of government and authority. A group of far-sighted pioneers of molecular biology, Paul Berg in the lead, voluntarily pledged to halt their laboratory manipulation of DNA in 1974 and planned an international conference to discuss the potential dangers of their work. The conference was held at the Asilomar Conference Center on the Monterrey Peninsula in February of 1975. The assembled effectively laid out the safety considerations for biomedical research that are still used as guidelines today: 1) containment of engineered biologics should be part of experimental design 2) barriers for containment should reflect the degree of potential risk 3) DNA of microbes highly pathogenic to humans would not be manipulated because the available safety measures of the day could not off-set the risk. The scientists lifted their self-imposed ban and biology moved forward.

Without this clever, preemptive action, would the development of recombinant DNA technology have been hampered by ill-informed, reactionary legislators? A few months later, the Cambridge City Council banned recombinant DNA research in July 1975 when Harvard announced plans to build a high-security laboratory. Fears of a mass-exodus of Harvard biologists did not materialize (David Baltimore raises the alarm to the Harvard Crimson circa December, 1975 here). Needless to say, the ban was lifted and Cambridge became one of the international centers of the biotechnology industry.

Flu, Ferrets and Fear

In late March, Dr. Paul Keim of the National Science Advisory Board for Biosecurity announced that the panel had reversed its prior decision and would allow two manuscripts describing laboratory transmission of H5N1 avian influenza virus to be published in Science and Nature. For several months prior, editors at Nature and Science, Drs. Ron Fouchier and Yoshihiro Kawaoka, the lead investigators of the two research groups, members of the advisory board and bioethicists-at-large debated the decision to redact publication in hearings, interviews and editorials. Opinions ranged from calls to permanently shut down the research programs to demands for full, immediate publication.

H5N1 is a flu strain that appeared naturally in bird populations, is transmissible via respiratory droplets and appears to be highly pathogenic in birds. Although it has led to the death and culling of hundreds of millions of birds, it was first found to cause a lethal human infection in Hong Kong in 1997. Since 2003, 578 confirmed human infections have resulted in 340 deaths. Many questions must be answered to understand the virus and prevent a potential public health threat: why is the virus not easily transmitted from birds to humans? Is the virus highly communicable between infected humans? What makes the viral infection so severe?

Dr. Fouchier and Kawaoka, working independently, attempted to move towards answers using ferrets, the lab rodents most similar to humans in terms of susceptibility to influenza infection. The researchers took the hemagglutinin protein (shorthanded as “H5”) from the avian virus and genetically combined it with remaining genes from other flu strains. In Kawaoka’s experiment, avian flu H5 was combined with the H1N1 strain that caused pandemic human infection rates in 2009 but had low lethality. The result is a virus can be transmitted via air droplets between ferrets. Importantly, the virus is not more lethal that H1N1 and responded to vaccines and treatment with drugs. Dr. Fouchier’s group mutated the H5 protein in the context of the avian H5N1 background. This virus could also be transmitted but did kill infected ferrets.

These experiments clearly have moved the influenza field forward in determining the genetic basis of transmission and lethality in infected mammals. The work has immediate implications in aiding surveillance of flu strains in birds and humans. It could provide seminal in developing vaccination and treatment strategies to block flu transmission or lessen the severity of infection. The experiments also raised fears that a laboratory strain of the virus could be released and cause and epidemic. More sinister, some worried that would-be bioterrorists could pick up Science or Nature and learn how to engineer a global pandemic.

The decision to publish the findings after careful review represents a victory for responsible use of biomedical science and for the public health. It also highlights continuing challenges for the scientific community: clearly communicating the importance of research in serving the public good and inspiring confidence that scientists can play the primary role in responsible self-governance. Remarkably, this was exactly what brought the luminaries of molecular biology to Asilomar more than 35 years ago.

In the case of the influenza controversy, the real and present danger is a flu pandemic resulting from genetic exchange between avian and human strains brought about through overcrowding, alteration of natural ecosystems, improper animal handling techniques and inadequate public health safeguards. Through the lens of fear, a seminal study can look like a field guide for terrorists. One of the key roles of science in our society must be to expose fear to knowledge.

Three Big Ideas in Science that Everyone Should Understand

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Welcome back to “Left on Longwood”. It is good to be back after several months out on the job search. We’ll have to revisit some memorable aspects of looking for a job as a clinician-educator soon. I’m very grateful to have had several great options and accepted a position that I’m very excited about.

So, I was recently asked to come up with “three big ideas in science that everyone should understand”. Challenge accepted!

1) Meaning in biomedical science is made by interpreting statistical and sensory data.

2) Diagnosis is a pattern-recognition process that seeks to fit a person’s symptoms and findings to a matrix of known diseases.

3) A unique in the universe, one-time only, experiment is performed every time a person takes a medication.

1) How do we come to “know” something in biomedical science? Whether the challenge is to understand the function of a protein in regulating a particular cellular phenomenon or in deciding what treatment a person with a certain set of symptoms and tests results should receive, biomedical scientists combine probabilistic assessments of quantitative data with descriptive assessments of visual or tactile data to come up with a best guess. Quantitative data and sensory inputs are very different types of information. Quantitative data require a set of technical skills to interpret. In the case of numerical results to lab tests that are scalar variables, what difference from a “normal range” of values is significant? Sure, some appreciation of basic statistics will be helpful. More important will be experience at looking at these numbers and to consider them in the context of the question being asked. For example, a blood test result could have a very different interpretation depending on who the blood was drawn from. Sensory data, how something looks or feels, must be described before meaning can be extracted. The appearance of cells under a slide can give an experienced observer hints about the physiological stresses at play. Although biomedical data, quantitative or visual, is ostensibly objective, “knowledge”, or at least a meaningful interpretation, comes from a combination of quantitative and descriptive thinking.

2) How is the definition of a disease created? Imagine a large dart board. A large group of people experiencing symptoms of illness each take a turn throwing a dart at the board. We’ll say that the unique position of the dart on the board represents each individual’s particular set of symptoms. (In effect, we have figured out a way to map each person’s range of symptoms and the accompanying medical testing data onto two-dimensional space.) If we stand back from the board after all of the darts have been thrown, at first glance we would be impressed by clusters. Most of the darts would be clustered together in different parts of the board. If we looked more closely, we would see some darts conspicuously stuck into open parts of the board, apart from and in between the clusters.

We could then take the clusters one at a time, learn a little bit about the symptoms of the people whose darts landed there and review their testing results. Based on what we found, we could propose a name to describe that particular pattern of symptoms, findings, abnormal labs, etc. Eureka! A new disease would be described (certainly not “discovered”). What about the people whose darts did not land near a cluster? These people could have a very rare disease; we might need many, many more people to take a turn throwing a dart in order to have other darts fall nearby and form a cluster. Alternatively, these people might not be sick at all. Their symptoms could in fact be within the spectrum of normal, healthy experience. In that case, we should not have handed them a dart in the first place.

The diagnostician seeks to gather information about a patient’s symptoms and obtain objective data (all the while resisting the temptation to include extraneous details and send unnecessary tests). Does the information fit a known pattern? Physicians are familiar with the well-grouped clusters on the dart board – common diagnoses. In this way, diagnosis is a pattern-recognition process that maps symptoms and findings on to a large matrix of previously characterized diseases. Outliers to known patterns, the lone darts, could represent “noise” or a chance to add important additional information to medical knowledge.

3) My pharmacology professor, Nobelist Al Gilman, opened up a series of lectures to my second year medical school class with this assertion. Mostly, this was greeted with yawns and eye-rolling. But to a certain type of curious and susceptible student, this was actually quite a profound statement. I must have been hooked because I went on to do my PhD in his department.

The number of variables that can affect an individual’s response to a medication is endless. What time did they take the medication? Did they swallow it with orange juice or water? To what extent was their disease active that day? Did a swamped pharmacist accidentally dispense the wrong medication? The variation between us and between the me of an hour ago and the me of this instant ensures that the experiment is never repeated under exactly the same conditions. Getting the right medication to the right patient at the right time is a quest that requires excellence from every part of the biomedical enterprise from the public health officer who recognizes an at-risk population to a quality improvement scientist who figures out how to decrease the rate of error in a system to the basic scientist who makes an observation that against-all-odds informs the development of a new drug.

Rounding with Santa

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Working in the hospital on December 25th has become an annual tradition. During residency, this took the form of grueling call-every-other-day sprints of four or five days. This allowed half of my colleagues to have the holiday off and the rest of us to have days off around New Year’s. This scheme did not do much to set me up for a big New Year’s Eve out. Two years in a row, I was laid out with nasty gastro as I limped past the Christmas coverage finish line. New Year’s was more about recovery than revelry. Children’s Hospital Boston does have one Dec. 25 tradition that I very much missed this year: bagels and lox brunch in the house staff lounge, fully catered with all of the trimmings. The queue for bagels could easily pass for a Saturday afternoon Bar Mitzvah receiving line in Brookline.

With my promotion from resident to fellow, covering our service over the holidays has become much more civilized. I brandish the pager. Yes, amazingly, even after drug dealers and pimps have moved on to more sophisticated devices, doctors still are made to wear pagers. I answer questions from nurses, residents, ER doctors and parents. We round on our admitted patients in the hospital, see a new consult if need be, be helpful without being too available and try to be home by luncheon.

As in every public sphere, the Christmas season comes early to hospitals, particularly children’s hospitals. Once the night nurses have cleaned up the midnight turkey feasts from Thanksgiving and started working down the leftovers, the hospital is fully adorned with yuletide decorations. December was a busy month at our hospital with a fundraising radio telethon, constant performances from musical acts ranging from tweener garage bands to 75 piece semi-pro orchestras, a rain-soaked downtown parade with celebrity marshal Jordin Sparks, holiday visits from the Cowboys, Mavericks and Stars (“Hey, who were those big guys with the mullets?”) and, in the form of a toy drive, the much anticipated launch of the Khloe Kardashian Dallas franchise. The focus is on ensuring that kids who need to be in the hospital around the holidays and kids from the socioeconomically challenged communities we serve get to experience American Christmas as fully as circumstances allow. Even when coupled with publicity seeking and brand development, the outpouring of support is genuine and generous. The kids benefit.

After the frenzied weeks-long lead-in, where one got used to dodging through lobbies full of well-dressed visitors and red-vested volunteers, the hospital was quiet on this Dec. 25th morning. As I made my way past the security desk, I saw a knot of Santa-hatted high school kids receiving instruction from holiday cocktail party attired hospital staff. Industrial-grade, wheeled canvas laundry carts, filled past the brim with wrapped presents, were at the ready. Although Santa Claus was nowhere to be found, his elves were ready to round.

True to form, the holiday weekend was eventful from a children with inflammatory conditions perspective. An 18 year old bull rider and his dad pulled up to the security entrance of Scottish Rite hospital late on Friday night. They produced a hand written note from their adult rheumatologist in a West Texas town which referred them to the Scottish Rite emergency room (Scottish Rite has no emergency room and frowns on emergencies), said that he needed urgently to see our boss and mentioned that the young man has dermatomyositis. The charge nurse went down to help the security guard direct the young man and his father to the Children’s emergency room. He paged me to give me a heads-up and wanted me to know that he was required to complete an incident report form. We also met an adorable toddler admitted on her eleventh day of daily fever who had swelling of her knees, hands and feet. Her story and findings easily fit the pattern for systemic-onset juvenile idiopathic arthritis. One day, two new patients with rare inflammatory conditions.

My attending and I were finishing an extensive conversation with the bull rider and his family about his condition, what we understand about its causes, what we don’t understand about its causes, our proposed treatments and what they could expect for the months ahead. Although he had difficulty swallowing without having food or liquid pass into his nasal cavity due to the extent of his pharyngeal muscle weakness, the young man answered our questions in a steady voice, with near-military politeness. When our attention turned to his assembled family members, he looked down to text on an iPhone with his calloused fingers. A relative, maybe an uncle, wore boots, cowboy hat, wranglers, and a Marlboro man mustache. At one point he removed his hat, smoothed his jet black hair while bowing his head, paused, looked up and said, “We sure do appreciate what you are doing. We did not know what to do and we were scared to death.”

The young man’s father followed us as we finished our goodbyes and turned towards the door. His sheepish posture and anxious expression made it clear that he had a few more questions for us that he wanted to ask out of earshot of his son. Stepping through the doorway, I saw that the hallway was full of people, the kids in red hats, the elves. The canvas laundry baskets were there, the mountains of presents were now foothills. To my left I saw Santa Claus, himself and no ministering elf, processing down the hallway. A handler with clipboard, headset and mouth piece hussled alongside, trying to keep up with the big man’s strides, relaying the essentials, “OK, this is an 18 year old. No brothers or sisters.”

The Santa came up behind the patient’s father and as I looked up, he must have been about 6’ 3’’, I got a good look at his face. Deeply creased eyes under the white polyester of the hat brim. Sallow, wrinkled cheeks that appeared almost gaunt compared to the mental image of Santa’s sanguine chubbiness. Just as the dad was explaining to me how his son’s illness forced him to drop out of college, Santa nearly pushed him aside with a sweep of a red forearm. “I need to get behind you,” he barked at me. I looked at my feet and found a neat stack of presents sitting outside the patient room’s door. He charged forward as the father and I cleared out of the way. Gesturing with exaggerated servility, I said, “Ah yes, right this way Dr. Klaus! Your patient is awaiting you!” The father was so worriedly intent on our conversation, I don’t think that he even noticed the exchange.

This wasn’t my first near-altercation with a Santa making the Dec. 25th hospital rounds. I was told off by a crotchety Boston Santa when I suggested that he might pause his rounds for a moment so that my All-Star Jewish Pediatrician ward team could pose for a picture with him. Although I’m learning that medical care takes a distant back seat to Santa on Christmas, I’m afraid that one of these years, one of us will snap, me or Santa, and that it might come to blows. If need be, I think I could take Santa. My main concern is the elves.

Happy New Year from Left on Longwood! 2011 has been a great inaugural year. Thanks for your readership and curiosity, we’ll look forward to more interesting discussions in the year ahead. Also, a special thanks to friend of Left on Longwood, Ari Bernstein, for the updated fall-early winter Longwood Avenue picture.

Rheumatology Confronts its Nazi Past

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“Tov she-barofim le-gehinom: The best doctors are destined for hell” (Babylonian Talmud, Kiddushin 82a)

The comment is made in the Talmudic Sages’ discussion of which professions should be discouraged by parents when advising their sons. It comes just after donkey-driver, camel-driver, wagon-driver, sailor, shepherd, and storekeeper are denigrated as the professions of thieves. The statement is disturbing and puzzling, particularly in the context of a theology that strives to uphold life and a culture that for millennia has revered the practice of the healing arts. There are enough jokes about Jewish mother’s fervent dream that their kids become doctors to confirm that centuries of Jewish parents have disregarded this Talmudic warning. What exactly was Abba Gurion of Zadyan warning against?

Rashi observed that the “best doctors” were healthy, wealthy, and not so devout. He worried that they would refuse to treat the poor. Other interpreters commented that doctors who think themselves superior might not consult with other doctors. The death of their patients might result. Picking up on this line of reasoning, the most “accomplished” physicians may become oblivious to observations and data that contradict held wisdom, surround themselves with nodding heads instead of inquisitive colleagues and students, and lose a sense of humility in the face of the body’s complexity. Taken this way, the Talmud is not saying “Mamas, don’t let your babies grow up to be doctors.” It is saying don’t raise them to be haughty physicians.

Although the Talmudic Sages used strong language, they did not envision a time or a circumstance when people trained to heal would create the conditions of hell on earth.  Exactly this happened during the Holocaust. Germany’s “best doctors” advocated theories of eugenics, euthanasia, Aryan superiority, anti-homosexuality, and Anti-Semitism that preceded the genocide.  The medical elite, raised by the finest families and trained at the most prestigious institutions, were the architects of the concentration camps and participants in mass murder. Most repulsively, Nazi physicians tortured and killed prisoners in horrifying ways in the name of “experimentation” to further an immoral and nightmarish version of “medical science”.

Certainly this is not the only historical episode where physicians have turned away from the profession’s best aspirations to become a menace to their fellow people (e.g. the Tuskegee and Guatemalan syphilis studies). The active participation of German physicians in the Holocaust is the most dramatic, widespread, and well-documented example. In a haunting and essential essay entitled “Without Conscience” that appeared in the New England Journal of Medicine in April, 2005, contemplating the essential role of physicians in the Holocaust, Elie Wiesel asks, “What made them forget or eclipse the Hippocratic Oath? What gagged their conscience? What happened to their humanity?”

Medical eponyms: dead, white, male and sometimes even Nazi

Medicine’s most visible way of honoring its best doctors has been to name something after them. Eponyms pervade every aspect of biomedicine: diseases, organs, anatomic structures, cells, physiologic principles, equations, surgical techniques, laboratory techniques, devices… If you can name something in medicine, you can name it after a discoverer, a promoter, an early adopter, or someone who wrote a paper about it at some point in dusty history.

The use of eponyms in medicine has fallen under heavy attack, and for good reason. The most substantive objection might be just that: eponymous names have no substance. The term “Crohn’s disease” doesn’t tell one anything about the symptoms caused by the condition, the organs it involves, or mechanisms of its pathophysiology. Eponymous naming squanders the opportunity to use a term that describes the thing being named. “Ulcerative colitis”, the name of a disease that is a close sibling of Crohn’s disease, gives one something to work with.  “Colitis” – inflammation of the colon and “ulcerative” – a description of what the inflamed colonic lining looks like. The glossary of medicine would be much more accessible to the people who need to know – patients, students, practitioners – if more of the names had intrinsic meaning.

Eponyms have also strained to resist the assault of several decades of post-modern scholarship that indict these names as reinforcing the hegemony of dead white males in medicine (and other areas of intellectual endeavor). It is a fair point. A vibrant non-white female may be discouraged from pursuing greatness in medicine if naming practice emphasizes that past glory was consistently attributed to the dominant, majority demographic. Why use names to further reinforce hierarchies in a medical culture that is already profoundly hierarchical?

Eponyms raise another, more thorny issue. Affixing an eponymous name to a thing or a concept brings with it strong associations to the personal history and attributes of the named individual. Opponents of the Affordable Care Act prefer to label it as “Obamacare.” For inspiration, Republicans drew on the Democrat’s previous example of “Reaganomics”. Ideas are often named after their creator-proponents and are colored by the association (e.g. McCarthyism, Marxism, Buddhism, Christianity…). When the named individual is obscure even in the circles in question, the name can become an abstracted term, a handle devoid of intrinsic meaning. Most medical eponyms fall in this category. We usually don’t know anything about the biography of the named person. We are left to infer that the individual’s life arc intersected with the story of our understanding of the natural phenomenon, even for a brief moment in time.

The advantage of eponyms is that one word can refer to something that might take a paragraph to explain. The disadvantage is that when we hear that one word, we all might have a different explanatory paragraph in mind. It must be noted that even though they are just one word, the surnames can be a bear to spell and pronounce. I heard about five different pronunciations of “Sjogren’s” when sportscasters struggled to report Venus Williams’ withdrawal from the US Open a few weeks back due to her recent diagnosis with the systemic autoimmune disease.

Medicine is learning the hard way that if you are going to name things after people it is best to know something about them. Historical investigators have discovered that several German physicians who had diseases named after them based on work done during the pre-war decades went on to have varying degrees of affiliation with the Nazis and participation in the atrocities of the Holocaust. The effort to replace these disgraced surnames with new, descriptive names has revealed that eponyms are entrenched and habit-forming.

Rheumatology, the field of medicine that focuses on autoimmune and inflammatory diseases and seeks to better understand the immune system, has the disgraceful distinction of having a disproportionate share of Nazi doctor disease names. After a decade of painstaking historical examination revealed that Drs. Friedrich Wegener and Hans Reiter were both members of the Nazi party and were implicated in war crimes, rheumatologists are now facing the challenge of purging “Wegener’s granulomatosis” and “Reiter’s Syndrome” from our language and our literature. I think that to understand what these names represent, it is important to take a few moments to discuss what is known about the men they referred to.

Dr. Friedrich Wegener, Pathologist of the Lodz Ghetto

Friedrich Wegener was born in Varel, a village in northwestern Germany 16 km south of Wilhelmshaven, in 1907. His father was a small town surgeon. His mother was Swedish and Wegener’s early education was bilingual. Wegener began his medical studies in Munich in 1927 and appears to have been a good athlete. He was on the team that won the German schleuderball championship in 1931 (this appears to be some kind of team handball played with a leather ball hurled by an attached strap).

In the 1930s, Wegener’s career trajectory mirrored that of the growth of the Nazi party. He received his undergraduate (medical) degree from the University of Kiel in 1932. In September 1932, he joined the Sturm Abteilung (“brownshirts”), the paramilitary storm troopers of the early Nazi period. He joined the National Socialist Party on May 1st, 1933, the day that Hitler seized power. Wegener’s Nazi party membership number appeared in a 2006 article in The Lancet, the first to describe his war-time activities: 2 731 267. He joined the Nazi party’s physician organization and its Organization of Academic Teachers.

In June 1934, Wegener did an autopsy on a 38 year old man who died from kidney failure after a prolonged febrile illness. He had a sunken depression of the bridge of his nose known as a saddle nose deformity. There was inflammation of the nasal mucosa and cartilage with destruction of the nasal septum. The kidneys were large and swollen. Wegener’s histopathological examination showed a peculiar type of inflammation in the nasal mucosa and the kidneys: necrotizing inflammation with granulomas. Wegener’s medical school friend, Heinz Klinger, reported a similar case in 1931 as a “borderline variant of periarteriitis nodosa.” Wegener did studies to exclude an infectious cause of the inflammation and presented the case at a 1936 meeting in Breslau (the paper was called “About generalized septic vascular diseases”). The talk prompted much discussion and the pathologists assembled were able to recall similar cases that they had seen at autopsy.

Wegener was appointed Lieutenant Colonel in the medical corps in 1938 and moved to Breslau to work with the new head of pathology, Dr. Martin Staemmler. Staemmler was a renown theorist of “racial hygiene”, and had published a widely read book called “Nurture of Race in the National Ethnic State: An exhortation to those who feel responsible for the future of our people” in 1933. In Breslau, Wegener found a third case (Klinger’s included): a 36 year old woman with chronic rhinitis who also died of kidney failure. Staemmler was able to recall the details of an additional case that he had seen years before.  With the encouragement of Staemmler, in 1939 Wegener finally wrote up and published the four cases in a German pathology journal: “About a peculiar rhinogenic granulomatosis with marked involvement of the arterial system and kidneys.” In a review article he published in 1990, Wegener reminisced, “The disease was on the verge of being discovered. Somebody had to do it.”

The German invasion of Poland began on September 1, 1939. A letter from Staemmler on September 19th places Wegener in Lodz, Poland, newly installed there as army pathologist. Lodz was a prominent industrialized city in occupied Poland. It was also a major center of Jewish life in the Pale of Settlement, the region of Imperial Russia including Poland, Ukraine, Moldova, Belarus, and Lithuania, where Jewish settlement was allowed by Catherine the Great in 1791. The Hassidic Master’s remarkable intellectual and spiritual contributions were made here. Lodz was the first German occupied city to confine its Jewish population in a closed ghetto. Wegener’s Institute for Pathology and Forensic Medicine was initially located in a villa near the northwest border (walls?) of the ghetto. Of the 250,000 inmates imprisoned in the Lodz ghetto in 1940, less than 1,000 survived the Holocaust. Wegener’s colleagues, including two physicians named Grohmann and Kleebank, selected the Jewish prisoners who were transported from the ghetto to be murdered at the Chelmno death camp between 1941-1944. From 1944 until the end of the war, the remainder of Lodz Jewry was killed at Auschwitz.

What direct role did Wegener play in the atrocities at Lodz? In addition to his military role, Wegener appears to have served as pathologist for the municipal health office (Gesundheitsamt) which performed 50-100 autopsies per month. There is evidence that he performed autopsies on ghetto inmates who died while being transported to Chelmno. On January 25, 1941, Wegener reported autopsy findings of a child from the ghetto that died at the railway station while being deported.

Did Wegener participate in the Nazi physician’s program of torture “experimentation”? Woywodt and Matteson, authors of the ’06 Lancet report, found a 1944 letter in Wegener’s hand: “Today, your manuscript about your work on air embolism has arrived safely in my institute. I hope I will be able to concern myself with this matter in greater detail in the near future.” There are not many things that cause air embolism, gas bubbles in blood vessels that can act like clots and block blood flow. Lung trauma, crude abortion procedures that puncture the vagina or uterus, and decompression sickness in divers (“the bends”) can do it. At the Dachau concentration camp, Dr. Sigmund Rascher used a low-pressure chamber to subject prisoners to simulated altitudes of up to 66,000 feet (20,000 meters) in 1942. 80 of the 200 subjects were killed by the exposure, the survivors were executed. Rascher is rumored to have dissected the brains of still living subjects for pathological examination. We will likely never know if the air embolisms in the manuscript eluded to in Wegner’s letter were the result of Rascher’s torture.

In the later stages of the war, Wegener left Lodz and was reassigned as a field surgeon. His unit was captured by American forces and he spent some time as a prisoner of war. At the conclusion of hostilities he was released, briefly worked as an agricultural laborer, and in 1947 he successfully underwent a “de-nazification” hearing with several witnesses testifying to his honorable conduct during the war. This cleared him to resume medical practice and he found work as a pathologist in private practice in Lubeck.

In 1954, Godman and Churg (“Churg” would go on to appear in “Churg-Strauss Syndrome”, the name used for another rare form of vasculitis) published a paper entitled “Wegener’s granulomatosis: pathology and review of the literature” in the AMA Archives of Pathology. The unsuspecting Wegener became an academic star. A medical school was started at Lubeck in 1964 and Wegener became Professor of Pathology. By all accounts, his students admired him as a dedicated teacher. When he retired to resume private practice in 1970, the Lubeck students organized a torchlight procession. In 1986, Wegener was rediscovered a second time by investigators in the growing field of vasculitis (inflammatory disease of blood vessels). He went to international meetings and helped to found a patient support group. In 1989, Wegener received a “Master Clinician” Award from the American College of Chest Physicians for his description of the vasculitis known as “Wegener’s Granulomatosis.” Apparently, the award was specially invented by friends of Wegener – it has not been bestowed before or since. He died of a stroke at the age of 83 in 1990.

Was Wegener a war criminal?

Woywodt and Matteson searched the archives of Yad Vashem, the Simon Wiesenthal Center, the Berlin Document Center, and the British National Archives and Records Administration and found no indication that Wegener was listed or tried as a war criminal. The Polish Institute for the Prosecution of German War Crimes had a card stating that a “Dr. Wegner [misspelled], Director of the Pathological Institute at Lodz” appeared on a wanted list and that his file had been forwarded to the United Nations War Crimes Commission in May, 1944. Wegener’s name appeared on the 1948 central list of war criminals and security suspects (CROWCASS). The Allied Forces compiled many such lists. The vast majority of those named were never investigated or located, let alone prosecuted.

Wegener’s story reveals the difficulty of assessing the morality of individual action through the lenses of archival history, complimentary testimonials, and honorific obituaries. Was Wegener a well-intentioned physician-scientist merely doing what was necessary to establish a career during the horrible years of Nazi rule that were his late 20s and 30s? Was he an ideological supporter of Hitler who enthusiastically volunteered for service and helped direct the “ghettoization” and near-complete annihilation of 250,000 Lodz Jews? Even if he merely followed orders, was he a participant in atrocities? The historical record does not make clear what we would most like to know: motive and intent.

The Unambiguous Case of Hans Reiter

Transcripts from Reiter’s interrogation while he was imprisoned at Nuremberg from 1945 to 1947 reveal that as president of the Reich Health Office he acted as “quality control officer” for the involuntary sterilization, euthanasia, and murder of Germany’s mental hospital population. He helped design and implement a “study” at Buchenwald in which over 200 prisoners died after receiving an “experimental” typhus vaccine. The two ranking doctors at Buchenwald committed suicide before they could be captured and interrogated. Reiter was not one of the 23 physician defendants in the “Doctor’s Trial,” United States of America v. Karl Brandt et. al., the first of the Nuremberg Tribunals. He was released, possibly because he provided the Allies with intelligence regarding Nazi germ warfare research.

Reiter reported the case of a military officer with arthritis, eye inflammation, and urethritis in 1916. Within weeks, Fiessinger and Leroy published a more accurate description of four cases in a French journal. The recognition of the pattern of inflammatory disease of the joints, eyes, and urethra in the medical literature goes back to the early 1500s with more complete reports by Stoll in 1776 and Brodie in 1818. The syndrome that came to be known as “Reiter’s Syndrome” is an inflammatory disorder that is triggered by bacterial infections, most often Chlamydia but also intestinal bugs. It occurs in genetically susceptible individuals, particularly those with the B27 subtype of the HLA gene. Of course, Chlamydia is a sexually transmitted disease. The reports of military officers with the syndrome during World War I may well have been due to action in the brothels while on leave from action in the trenches.

Although Reiter’s was not the first, most accurate, or largest case series, he received eponymous recognition due to a 1942 paper published by two rheumatologists at MGH which referred in the title to “so-called Reiter’s disease”. Reiter had a peaceful post-war life and received accolades including the Great Medal of Honor of the Red Cross. JAMA published a glowing obituary following his death in 1969 which referred only in passing to his “National Socialist” affiliation.

How best to confront the past?

Hans Reiter would meet anyone’s definition of a Nazi war criminal. Friedrich Wegener’s record is deeply troubling but somewhat ambiguous. Reiter made no significant scientific contribution with his report on reactive arthritis. Wegener published an early and tentative report on four patients. It is fair to say that he had little idea of what he was looking at, other than that it was new to science. Reacting with glacial pace, the rheumatology community is finally making moves to repudiate the eponyms of “Wegener” and “Reiter”. An account of the record of Reiter’s interrogation at Nuremberg did not appear in the rheumatology literature until 2000. An editorial by a group including Dr. Ephraim Engleman, one of the authors of the 1942 paper, formally retracting the use of “Reiter’s syndrome” did not appear until 2007.

The Lancet rejected the paper on Wegener’s history when it was first submitted in 2000. The editors’ explanation for the “not acceptable in present form” decision was: “We understand that he was imprisoned after the war for activities undertaken under the Nazi regime, and that was why he was not practicing as a pathologist.” Seriously? With “Wegener’s granulomatosis” in universal use and no mention in the medical literature of his Nazi activities, The Lancet acted as though the first detailed analysis of the historical and scientific record was old news. It took six more years of painstaking research before The Lancet was persuaded that the medical community needed to know about Wegener’s past.

Coming up with descriptive names to replace eponyms has been a medical and organizational challenge. A new name for the entity of arthritis, uveitis, and urethritis triggered by infection was pretty easy: “reactive arthritis.” The term had already been widely used in the literature, seems to describe the mechanism of the disease and rolls off the tongue nicely. The disease formally known as “Wegener’s” is more complicated and so was the re-naming process. An international group of 13 vasculitis experts met in November, 2010 to reach consensus on an alternate name. The drum roll announcement appeared in Arthritis and Rheumatism in April, 2011: “granulomatosis with polyangiitis (Wegener’s)” with the acronym of GPA. The parenthetical survival of “Wegener’s” was felt to be necessary for clarity given the eponym’s firmly entrenched status and to facilitate on-line literature searches. The experts expressed hope that the trailing “(Wegener’s)” can be phased out over a period of “several years”.

The disease entity now known as granulomatosis with polyangiitis is a rare disease, very rare in children. Despite being so unusual (we recently discussed another enigmatic vasculitis, Takayasu arteritis), we currently follow about 10 children with the disease in our clinic. We consider the diagnosis in other patients who won’t end up having the condition. So yes, we have plenty of opportunities to talk about the disease every day. I’ve only heard “GPA” referred to in jest, as that cumbersome new name. In formal talks, chapters in textbooks published this year, conversations with patients and families, email list-serves, and cafeteria shop-talk we continue to say “Wegener’s.”

I try, but do not always find the opportunity, to teach residents and students the story behind the term “Wegener’s.” I think this is preferable to merely telling them that the term is no longer in use. I have found it difficult to correct my colleagues’ usage, particularly my senior colleagues. The right way to address this will be to put it on the agenda – a discussion of our use of eponyms at a team meeting.

The haunting questions

My grandparents survived the Holocaust in Poland (now Ukraine). My mother was born in a displaced persons’ camp in Berchtesgaden, Germany. She was the first Jewish baby born in the hospital at the foot of the mountain where Hitler’s Eagle’s Nest was perched. It was a nerve-wracking delivery. My mom was born at 32 weeks, very premature by 1946 standards. My grandmom told the story that the doctor who delivered my mom in the morning was arrested for being an SS officer that afternoon. The doctor did his job. But what was his intent?

Wiesel is left to answer his question – What happened to the Nazi doctor’s humanity? – with another question: “Am I naïve in believing that medicine is still a noble profession, upholding the highest ethical principles?” For a source of hope, he draws on his memory of the physicians he knew in the concentration camps who tried desperately to relieve the suffering.

Who are the “best doctors”? Our best hope of fulfilling the aspirations of this and other noble professions might be that we continue to ask the haunting questions. And that we ask them of ourselves.

One Rare Disease, Two Outcomes

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We’ve made a rare diagnosis. What happens next?

In our last post, a patient’s presentation with features of a rare disease gave us an opportunity to discuss how diagnoses are made. We saw that the pattern recognition that matches findings and data with the large matrix of potential diagnoses is a semi-scientific process. It turns out that people exist in nature with strange combinations of symptoms that agree with well-described diagnoses. This makes us feel more confident that our medical edifice is on solid footing.

A number of you, dear readers, were curious to know how the little girl with the very rare inflammatory disease of blood vessels (Takayasu arteritis) is doing. It will take some time to get a sense for whether or not she is responding to steroid therapy (I’ll see her back for the first time next week). An additional challenge in her case is that since she has little in the way of symptoms (besides her high blood pressure) or lab abnormalities, we will need to repeat her sophisticated MRI imaging over time to know if her treatment is working.

Although having the correct diagnosis (or diagnoses) can be a major barrier for patients with mysterious symptoms, I think that the correct diagnosis is less often the main obstacle that keeps patients from getting better. Treatment, no matter how seemingly straightforward, is where the devilish details lie. The application of Systems Science to medicine in recent years has revealed how many decision points, information transfers and potential sources of error occur between a correct diagnosis and a correctly administered treatment. Even when the patient takes the treatment in the right dose, at the right time, in the right way – does everything the doctor asks – variation and complexity send the doctor and patient back to the therapeutic drawing board. Figuring out treatments that work is an empiric process and this trial and error is the backbone of what people like to call the “art of medicine”. We can talk about what “art” is (preferably over some good wine), but I’ll say that medicine doesn’t strike me as much of an art. I think that it is more of a craft: a particular type of problem solving that occurs at the intersection of what is known, what is needed and what is possible. The social situation of patients has an enormous impact on both the needs and the possibilities. Two patients that I met on one day last week provided a dramatic reminder.

Monday Morning’s Case: a 5 year old African American boy with weakness and rash

Barry was my second patient of the day in our Monday morning clinic. His grandmother and mother told me that Barry had been a healthy kid until late May when they noticed that Barry began to limp when he was running and going up stairs. He also began to complain that his shins hurt when he would walk for longer distances. After several weeks, they noticed that Barry had a dry looking red rash over his knuckles, knees, and elbows. They took Barry to see his pediatrician in late June. She saw that he clearly had weakness particularly in his upper arms and thighs. She took a close look at Barry’s hands and felt pretty confident that she had seen that raised, red rash over the knuckles before. She ordered laboratory tests including enzymes that are released when muscle cells are damaged by inflammation. The blood levels of several of the enzymes were elevated. Although the disease that was causing Barry’s weakness and rash is also very rare (between one-in-a-million and five-in-a-million kids), his pediatrician had done a rotation in our pediatric rheumatology clinic during her residency and had seen patients with it before.

She promptly referred Barry to our group and the visit was for a planned admission for Barry to have two definitive diagnostic tests (MRI of his hips and thighs to look for muscle inflammation, muscle biopsy to confirm the diagnosis) and to have intravenous infusions of high-dose steroids to begin his treatment.

Barry’s mother and grandmother were relaxed and poised. They sat watching impassively even while Barry could not do tasks that would be simple for most kids his age, like climb up on to the exam table or keep his head lifted up off of the table while lying on his back. Although not medically sophisticated, Barry’s mother was prepared for our conversation. She had read patient information handouts about Juvenile Dermatomyositis and its treatment. She asked good questions and wanted to know more about what to expect for Barry’s initial treatment. Based on a composite view of the small signifiers that we use to size up each other’s socioeconomics (clothes, phones, purses, speech, etc.), I would say that the family seemed to be middle-middle class. Barry’s mother probably had a career and some post high school education. I did not ask about Barry’s father. The hospitalization lasted for three days and went smoothly. The MRI and muscle biopsy confirmed the diagnosis of Juvenile Dermatomyositis (JDM) and Barry did well with the steroid infusions.

Monday Afternoon’s Case: a 4 year old African American boy with weakness and skin lesions

I made my way over to the big house (our large children’s hospital) with my senior attending (boss) to see our admitted patients. We saw a school-aged girl with episodic hip pain who was waiting to have an MRI. A new patient with lupus and renal disease had been admitted from our clinic to be treated with high-dose intravenous steroids. By about 4:30 we were wrapping things up, gossiping about departmental politics, and getting ready to head home. I got a page from one of our pediatric hospitalists, the text message said “new-onset dermatomyositis”. We walked over to the nurses’ station and found our colleague. The page was still fresh. We could see the just-sent message up on the monitor in front of him.

He told us the story of a 4yo African American boy who had been transferred from the emergency room of a nearby regional hospital the night before.  Ricky, we’ll say, spent his first two months in the neonatal intensive care unit of the same regional hospital. His mother was addicted to heroin and Ricky was born with dependence to the drug, a condition that is sometimes called “neonatal abstinence syndrome”. His development and growth were delayed. We were told that he eventually caught up in his height and weight and his movement skills. About 6 months ago, Ricky’s grandmother, his primary caregiver, noticed that he started to walk slowly and that he would tire out more easily. What happened in between was unclear, but things progressed to the point that Ricky had to be carried and lifted to go up stairs and to make it into his car seat. We were told that he was unable to walk and was getting around his house by scooting on his bottom. He was brought to the emergency room because of skin ulcers on his bottom and in his arm pits. The outer layers of the skin of his buttocks had literally been rug-burned away leaving the raw, red deeper dermal layer exposed. His skin was fissured and torn where he had repeatedly been lifted with hands placed under his armpits. He had low-grade fevers, probably from infection of the skin wounds, and the hospitalist had started treatment with an intravenous antibiotic overnight.

Ricky had seen specialists at the regional hospital over the prior two months. Records with sufficient information to fairly well establish the diagnosis of JDM came over on the fax machine. Notes from the doctors there indicated that they would begin to start treatment for dermatomyositis when the muscle biopsy results had been reviewed by an expert pathologist.  We were not quite convinced by the quality of the records to be sure that Ricky was also a one-in-a-million child with JDM. It was unclear whether the delay in initiating the treatment was due to challenges faced by Ricky’s family or hesitation and uncertainty on the part of his doctors (or, most likely, both).

Ricky lay perfectly still under the starchy white sheet, looking up at the ceiling. His long hair was braided into ponytails, thin ropes draped outward on the pillow. The sweetness and sadness of his expression made him unbearably cute. His grandmother stood at the side of the bed. It was hard not to flinch while looking at her and shaking her mangled hand. Her face, neck and arms were disfigured by surgical scars connecting a patchwork of rectangular segments of skin. There were four fingers on each gnarled hand; her thumbs looked like they might have been repurposed index fingers. We did not have the heart to ask what had happened to her, particularly at that first meeting, but it seems that she had needed extensive skin grafting because of a terrible burn or accident.

Ricky’s grandmom told us about a trip the family had taken in November and the weakness that began in February. Detail was scant and we quickly found ourselves in the present, with Ricky unable to walk and the skin lesions caused by the floor and the car seat prompting the emergency room visit. She was unaware of the provisional diagnosis made by the doctors at the regional hospital. She was concerned about Ricky but had not discussed how the weakness might be treated. We mustered our most soothing voices to ask Ricky how he was feeling. When he quietly told us that he was OK, his grandmother reminded him to address my boss as “Mame”. Later in the week we were back at Ricky’s bedside while a wound care nurse changed his dressings. Although he had been given a dose of morphine, tears welled up in his eyes the moment the nurse began to loosen the tape. It was a very difficult thing to watch.

All disease is social (All politics is local)

JDM is a rare inflammatory myopathy that affects skin, muscle, and at times other internal organs. Like Takayasu arteritis, vasculitis (inflammation of blood vessels) appears to be a component of the condition although small vessels are affected. The underlying immunologic and cellular cause of the disease is still an area of significant mystery. Last year, I tried to make a divot in this small corner of the unknown medical universe by determining the types of genes that are expressed in the blood cells of patients with active and well-treated disease. It appears that many of the genes that signal the immune system’s response to an active viral infection are turned on in the blood of patients with acute disease. We see a similar pattern in lupus. It seems as though some trigger (perhaps viral infection?) sets off an exaggerated and prolonged inflammatory response that causes tissue damage in these children with a very specific, and unknown, genetic predisposition.

It took several days for Ricky’s muscle biopsy slides to make it to our neuromuscular pathologist. The pattern of inflammation was consistent with JDM, clinching the diagnosis. There were some calcium deposits present in the muscle, suggesting that the inflammatory process had been going on for at least months, possibly years. With continued intravenous antibiotics, Ricky’s fever improved and with the careful attention of the wound nurse, his skin is healing. Although he is now receiving intermediate daily doses of steroids, we still have not felt ready to pull the trigger on the high-dose intravenous steroids he needs until his skin wounds are better healed.

Barry and Ricky are two little boys of almost the same age and ethnicity who were diagnosed with the same rare disease during the same week. The social circumstances that influenced the path towards a diagnosis and the initiation of treatment differ dramatically. As with many of our inflammatory and autoimmune diseases, we now have good data that early aggressive treatment employed to dampen down and stop the inflammatory cascade before tissue damage accumulates leads to better outcomes in JDM. Barry’s diagnosis was made about as quickly as could be hoped and his treatment went forward without delay. We are only beginning to deal with Ricky’s acute illness. Although he has the same disease as Barry, Ricky’s unique version of JDM may well be more severe due to delayed diagnosis and treatment. Most worrisome, the biggest obstacles standing in the way of his recovery may still lie ahead.

I can think of many moments back on Longwood Ave. during residency when a seasoned clinician would interrupt a subordinate’s presentation about a patient with a newly diagnosed disease to ask, “OK, what is the family like?”  I was annoyed by this. It seemed presumptuous to skip past the medical details to dig into a description of the family’s circumstances, what we usually call the “social history”. I wondered if this was motivated by voyeurism. The master clinicians had diagnosed patients with even rare diseases so many times before, it seemed that they were mainly interested in the juicy details of whether or not there was a “good mom” and if the father was “involved”. Now I can see that with their years of experience, perhaps they had come to appreciate that the particular challenges of working with a family to optimize a child’s treatment really was the most important thing that they could ask about, even on Day One. Nowhere has the importance of the social history been written about more eloquently then in a commentary by Chen Kenyon, friend of Left on Longwood, published four years ago today in Pediatrics.

JDM is a very treatable condition. It is one of the pediatric rheumatic conditions that we think can be truly cured (superstitious or not, we are a little more comfortable calling this “stable remission off medications”). We will work with Ricky and Barry’s families towards this hopeful outcome. The paths traveled to get there from here may be very different.

Hoofbeats of Zebras: The Allure of Rare Diagnoses

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“When you hear hoofbeats, think horses, not zebras.” It is one of medicine’s most enduring aphorisms. Anyone who has ever stalked the wards of a teaching hospital as part of a general medicine team has heard this at one time or another from a wizened senior resident or gray eminence attending. Usually, this proverb is offered when a more junior trainee suggests an unusual diagnosis to a superior. It might be medicine’s equivalent of engineering’s KISS (Keep It Simple, Stupid). Hard as it is to pinpoint the source of such a ubiquitous saying, Wiki credits Dr. Theodore Woodward, a ‘40s-era professor at UMBC (I hope that he used to round while chewing an unlit pipe or cigar). In the American heartland, hoofbeats are usually made by horses. “Zebra” has come to be medical slang for a rare diagnosis. Perhaps Saharan physicians have turned the saying on its head? Like bird watchers crossing species off their lifetime “lists”, many physicians are coveters and collectors of Zebra diagnoses. What is the basis for doctor’s fascination with rare diagnoses? What is it like to make one?

Last week I was working my way through a pretty typical morning clinic at Texas Scottish Rite Hospital for Children, a Masonic charity hospital in Dallas that specializes in caring for children with musculoskeletal and developmental conditions. Arthritis is a common feature of a variety of autoimmune and inflammatory processes. Since Rheumatology is the “ology” of autoimmunity and inflammation, we see children who are referred from across Texas and adjoining states in Scottish Rite’s “Arthritis Clinic”. I had seen a patient with one of the forms of Juvenile Idiopathic Arthritis (the most current name for a family of disorders which cause inflammatory arthritis in children, the “idiopathic” is because the cause remains poorly understood). She was doing well. I refilled her prescription for every-other-week injections of an anti-TNF arthritis drug. One of our fine clinic staff asked me if I was up for seeing a new patient, freshly referred by her pediatrician. I said sure.

The ten year old girl was being referred for high blood pressure. This was a bit strange. Some rheumatology patients do have hypertension as a symptom of their condition, particularly our patients with kidney disease due to lupus (systemic lupus erythematosus). But we usually don’t see high blood pressure all by itself. I made my way through a mercifully thin packet of material sent along by the pediatrician’s office trying to figure out what else there was to the story. In late June, Maria (not her name, but we’ll call her that) went to her pediatrician’s office in a town about 30 miles east of Dallas for a routine well visit. When a nurse took her blood pressure it was 150/70. You can imagine the scene, they probably adjusted the cuff, re-checked it, maybe even had someone else check it again. Why should a perfectly healthy ten year old have such a high blood pressure? Maria’s pediatrician was astute and checked the blood pressure in one of her legs. Sure enough, the systolic pressure (the top number, the pressure during the contraction of the heart’s ventricles) was thirty points lower when the cuff was placed on her leg.

Within a few days, Maria was in the office of a pediatric cardiologist in Dallas. The most straightforward (KISS) explanation for the discrepancy in her arm and leg blood pressures was that she had a narrowing in the caliber of the aorta (the main artery taking blood away from the left ventricle to supply the body). This would be a structural abnormality, present from birth, known as coarctation of the aorta. Congential heart defects are common (0.5 to 1 per 1,000 births) and coarctation makes up a significant portion of this group (5-8%, corresponding to about 1 in 20,000 births). By the standards of pediatric subspecialty care, this is a relatively common condition – right down the middle of the plate for a pediatric cardiologist. And yes, not uncommonly these congenital defects do not cause significant symptoms and are not recognized until later in life, sometimes even into adulthood.

The cardiologist confirmed the blood pressure discrepancy between Maria’s arms and legs. When he palpated her radial (on the wrist at the base of the thumb) and femoral (in the groin) pulses simultaneously, one in each hand, the cardiologist noticed that the radial pulse came first and the femoral one was delayed – a classic physical exam finding  indicated a narrowing of the aorta known as radial-femoral delay. An echocardiogram (done by applying an ultrasound probe to the chest wall) showed that Maria’s heart squeezed normally with each beat. The pulse did not seem as strong as would be expected in the portion of the aorta that courses through the abdomen, further evidence of coarctation. The pitch seemed to be right in the strike zone; everything was consistent with a diagnosis of coarctation of the aorta. The cardiologist referred Maria to have an MRI of her heart performed. This would reveal exactly where the congenital narrowing was located so that a heart surgeon could plan an approach to repair the defect and “cure” Maria’s problem.

The MRI images were as unexpected as they were dramatic. Instead of showing one area of narrowing in the aorta, the MRI showed that Maria’s aorta had balloon-like areas of dilation separated by multiple regions of significant narrowing. Remarkably, the abnormalities were not confined to the aorta. Areas of dilation and narrowing were present on all of the large and medium arteries visualized by the study.  The radiologist noticed that the walls of the vessels seemed thicker than usual and obtained additional specialized images that suggested that the thickening was due to inflammation. The perfect strike was turning into a late-breaking curveball. The pediatric cardiologist called up our clinic that day and made a referral.

The description of the cardiac MRI spoke volumes. Could this be a case of Takayasu arteritis? I closed the chart, donned my stethoscope (which, unlike in most of my patient encounters, I would actually need to use), and knocked on the door of the exam room. Maria’s parents sat side-by-side, diminutive in stature and closer to middle age, their faces open but impassive. Maria smiled, scissoring her legs playfully over the edge of the exam table. She looked truly well, the picture of health. After my friendly “Helloooo!” and a few words of introduction, Maria’s parents’ body language made it clear that I would need to break out at least a little bit of Spanish. I speak with reasonable fluency but with the vocabulary of a 2nd grader with a precocious interest in TV medical dramas.

Asking a few questions of Maria’s parents, I confirmed the key point of “the history”: basically, that there was none. She was perfectly healthy and active. No fever, rashes, pain… the answer to the laundry list of symptoms was “no”. They took Maria to the pediatrician and her blood pressure was high. I turned my attention to Maria (relieved to be switching back to English). “Hey, let me ask you this. Do you ever get pain in your legs when you’ve been walking a lot or running?” Maria had noticed that some, she said it was a “soreness” kind of pain. I finished my history taking. Maria was healthy in the past, nothing unusual in the family’s medical history, nothing to suggest that she might have been exposed to tuberculosis infection.

A few moments later, I stood in front of Maria holding the bell (the business end) of my stethoscope up against the side of her neck. I don’t usually do this when examining a kid in the clinic or the hospital. I asked Maria to hold her breath for a moment. Instead of a concentrated thumping noise with each beat of her pulse, I heard a prolonged sound with an irregular, tumbling quality. I heard a similar sound, even more unmistakable, when I listened over her abdomen. The pulses at her wrists were strong and even. I performed a maneuver known as the Allen test to assess the amount of time required for blood to flow back into Maria’s hands after her repeated opening and closing of her fist with my fingers clamped over her radial and ulnar arteries. Her right hand blushed up after about 2 seconds. The left hand stayed pale-white for 7 seconds. The radial-femoral delay was the most pronounced I have seen. Cramping calf pain with exertion (claudication), bruits (turbulent sounds made by blood rushing through the narrowed areas of the carotid artery and the abdominal aorta), the asymmetric Allen test, the radial-femoral delay, all were rare findings consistent with the diagnosis. I was now convinced.

A review published last fall in the journal Rheumatology called “Takayasu arteritis in children and adolescents” pushes off with “Takayasu arteritis is the most common, granulomatous inflammation of large arteritis; it is potentially life threatening.” To say that Takayasu arteritis (TA) is the most common anything is laughable. The incidence of TA in adults is around one in a million depending on the study and the population sampled. There is no good data in kids and the one in a million incidence estimate is extrapolated from the adult studies. The attempt to determine incidence figures for rare diseases is at best an inexact science. The challenge is figuring out the right denominator to go below the numerator of “1”.  There are about 7 million Texans under the age of 18. We certainly do not see 7 new diagnoses of Takayasu arteritis in a year at our state-wide referral center. I doubt that we would come up with that many patients if we compared notes with our colleagues in Austin and Houston.

Takayasu arteritis is a rare type of vasculitis, a group of unusual and mysterious conditions where abnormal activity of the immune system results in inflammation in the walls of blood vessels. A biopsy of involved blood vessels and the help of a pathologist if often needed to make the diagnosis. The different forms of vasculitis have different patterns of immune cell infiltration into the vessel walls. The inflammation in some forms of vasculitis is exacerbated by auto-antibodies, produced when immune regulatory mechanisms fail and the body’s own proteins are recognized as foreign substances. Vasculitis can run the full gamut of typically (but not always) benign conditions that pediatricians diagnose purely based on symptoms and where reassurance and monitoring are sufficient treatment (Henoch Schonlein Purpura or HSP) to the life threatening (like TA and ANCA-associated vasculitis). How do people get vasculitis? As with so many of our diseases, the most current thinking is that people with a very specific (but unknown) genetic susceptibility encounter the wrong environmental trigger (usually infections) at the wrong time. Rather than having a normal, regulated, inflammatory response to the trigger, these people have an exaggerated reaction that not only resolves the inciting cause but also causes collateral tissue damage. Kind of like a park ranger investigating the source of a forest fire, the rheumatologist can’t find evidence for the cigarette negligently flicked into dry brush by a camper or a lightening strike. Like smoke jumpers putting out the flames, the rheumatologist uses the tools at hand (steroids and other immunosuppressive drugs) to try to extinguish the inflammation.

My attending rheumatologist became wide-eyed when I told her Maria’s story, related the results of my exam, and my working diagnosis. We formulated a plan to treat Maria with high doses of daily oral steroids. Steroids are indispensable in controlling many inflammatory diseases but are a terribly blunt tool. Virtually every patient exposed to chronic high-dose steroids develop adverse effects ranging from the cosmetic (hair growth, acne) to the serious (weight gain, metabolic abnormalities, osteoporosis…). We decided to start a second immunomodulatory drug called methotrexate (a workhorse in pediatric rheumatology) with the hope that this would allow us to decrease and hopefully stop the steroids sooner.  Turning to look at me while placing her stethoscope over Maria’s carotid artery, she silently mouthed “Wow!”. I explained the diagnosis as best as I could in both languages to Maria and her family. Yes, she would be able to play and do everything that she wanted to do. I told them that in historical studies up to 60% of patients had complete resolution of the disease with steroid therapy alone. In that old literature, mortality in children was reported to be as high as 35%. With the treatment tools and imaging modalities available, and with the fact that she is so well, we have every reason to be hopeful.

I admit, for me, Maria’s clinic visit was exhilarating. After all, I chose rheumatology, a field where the diseases range from unusual to exceedingly rare. Even our bread and butter, Juvenile Idiopathic Arthritis (the first patient I saw that day), only occurs in about 1 in 10,000 children (similar to coarctation of the aorta). The principle attraction for me was the fact that the etiology of our diseases are unknown, mysterious, and as a result, fascinating for a physician-scientist. Since meeting Maria, I’ve been thinking about what draws me, and so many other physicians, to the pursuit of Zebras. Of course, there is the appeal of being able to see enough patients with a rare condition to gain sufficient experience to help doctors who haven’t. As hard as it is to tell a child and her family that she has a life-threatening disease, being able to rely on some experience and to interpret the medical literature in a very specialized area, puts one in a position to be helpful. The details of what exactly happened comprise a patient’s story and create narrative drama. The more unusual the story is, the greater the dramatic effect. Like everyone else, physicians collect and trade stories. Ours happen to be about patients.

But I think that there is even more to the Zebra phenomenon.

A few minutes on the weather channel or ESPN will illustrate that we are intrigued by rare occurrences, be it consecutive days of over 100 degree heat in North Texas or a ballplayer’s 3,000th career hit (boo Yankees). Rare events, more precisely, the awareness that one is witnessing a rare event (often the event itself has little interest – just another absurdly hot day in Dallas), have an aesthetic appeal. The onlooker has a sense of awe that discharges reflexively, like a jolt of adrenaline. Through the millennia, this innate part of our psyche has made us well equipped to perceive miracles. Even if the rare event is not a good one, such as a life-changing diagnosis, the shock of awe is irrepressible.

The existence of Zebra diagnoses is oddly reassuring to doctors. The fact that there is a little girl in Texas who has peculiar inflammation in her blood vessels that matches relatively specific descriptions in textbook chapters and review articles makes us more convinced that the foundation underlying our medical edifice holds firm. That one could read a textbook and then go and put a stethoscope on that girl’s neck and hear a particular sound almost seems like predicting the future. Although dramatically abnormal, the pattern of findings has been seen before. Takayasu was an ophthalmologist who reported a curious case of a patient with inflammation of the arteries located at the back of the retina at a 1908 meeting in Japan. Two other cases were reported that week, patients whose pulses were absent due to some problem in the large arteries. With more patients and more descriptions, the pattern of abnormalities took shape over time and began to define a disease. Being able to make sense of the seeming randomness of nature with logical first principles is the mission of science. The closest physicians come to this is fitting a constellation of symptoms, findings, and abnormal test results into a recognizable pattern – this is making a diagnosis. We carry around in our minds (and sometimes our smart phones) a large matrix which matches diagnoses with clinical findings. Being able to find a pattern in the labyrinthine matrix of diagnoses that matches an unusual patient story makes us feel that we understand disease and the workings of the body. It gives us just enough confidence to take a shot at knowing what to do.

 

Paid to Trash Medicine

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Anyone who has tangled with the health care system, even briefly, knows it to be a web of perverse incentives. Reward (payment) comes for providing services, medications, and supplies not for solving problems and meeting needs. As a result, it should hardly be a surprise when more procedures, consultations, and prescriptions become necessary over time to address a given medical issue, say a child with an asthma exacerbation or a woman with a heart attack. This is one of the principle inefficiencies that make our health care the world’s most expensive and may well play a role in keeping it from being among the world’s most effective.

When does inefficiency in health care cross the line and become out-and-out fraud? If we knew exactly the treatments that a given patient would need to be restored to their previous health, it would be easy to draw a bright line that would delineate necessary care from add-ons that bilk the system. The same gray area that obscures our understanding of disease and how best to treat it makes for uncertainty in how much care for a particular medical problem should cost. Health care providers operate in this gray area and business on both sides of the line is booming. Medicare and Medicaid fraud has been estimated at $60 billion a year, although putting a figure on it might be something like trying to put a dollar sign on the cocaine trade.

DaVita, which has a third of the country’s kidney dialysis patients, has provided us with a less-than-subtle example of Medicare fraud in action. In a whistle-blower lawsuit brought in the Atlanta US District Court, DaVita stands accused of systematically altering the interval of medication doses, ordering larger medication vials than needed for a patient’s dose, throwing out the leftover and then billing Medicare for all of the medicine. Andrew Pollack, writing in the July 25th Times, breaks down how the scheme (allegedly) worked. Dialysis patients often need treatment for anemia with an injectable iron supplement to boost red blood cell production that is depleted by kidney failure and dialysis. One injectable form of iron is Venofer (iron sucrose), which is typically given as a 100 mg injection once or twice a month. DaVita had patients receive frequent 25 mg injections of the drug, presumably once a week. The remaining 75 mg in the vial would be thrown away. Medicare would be billed for the entire 100 mg dose. By my calculation, this is a 4x mark-up. There was a similar scam for Vitamin D administration, a vitamin that dialysis patients lack because the kidney plays an important role in Vitamin D synthesis and uptake.

The lawsuit was brought by a nurse and a nephrologist working at DaVita dialysis centers in Georgia. Daniel Barbir worked at the center in Cummings, GA that was operated by Gambro until it was acquired by DaVita in 2005. He resigned the following year after his complaints about the company’s dosing protocols fell on deaf ears. Dr. Alon Vainer was the medical director at a number of Gambro and DaVita dialysis centers in Georgia. His employment contracts were not renewed by DaVita. Apparently filing the law suit was not great for his future with the company.

Although it is not an admission of guilt, DaVita has changed its prescribing protocols. It now only gives Venofer in 50mg (a new vial size) and 100mg doses and did away with the offending 25mg dose that required that medicine be wasted. This change happened to coincide not only with the lawsuit, but also with the debut of a new dialysis billing system, started in January, which reimburses a fixed sum for dialysis care instead of reimbursing for itemized goods and services (more to discuss here). DaVita’s spokesman, Bill Myers, crafted this email response to the Times explaining the timing of the change in policy, “For many reasons, treating physicians asked for a stronger clinical application tool for iron therapy and we were able to offer one contemporaneously with the new billing system”. Perfect.

Despite the fact that DaVita seemed to be running a scam (you’ve got to wonder how else they were over-billing Medicare), the federal government decided not to join the lawsuit after a two year investigation. That decision is probably the closest thing that DaVita has to a defense. Now the whistleblowers stand alone.

How can we improve a health care reimbursement system that encourages inefficiency and at its worst incentivizes fraud? With the leadership of Dr. Donald Berwick, the Centers for Medicare and Medicaid Services (CMS) have courageously fought against the powerful interests who are quite happy with the current system to replace a la carte reimbursement with an integrated system that pays a fixed amount for management of a specific medical condition. The Accountable Care Organization (ACO) model is a key part of the Affordable Care Act and its implementation is critical in making health care reform a success. ACOs work. CMS just announced encouraging results from the Physician Group Demonstration, a five year pilot study of the ACO concept. Check out Dr. Berwick on the PBS Newshour this evening (nowish), always a treat. Left on Longwood is proud to count several ACO pioneers among our friends, apologies for preaching to the choirmasters.

Today’s Dallas Morning News headline gloated over a CMS report that found conditions at Parkland Hospital to pose “an immediate and serious threat to patient health and safety.” Parkland is the venerable county hospital that provides care for Dallas’ indigent population, mostly supported by Medicare/Medicaid. The investigation was spurred by a fatal incident that occurred in the Parkland psychiatric ER (a fascinating and yes, violent, place to spend time as a medical student). Parkland must respond with a plan to address a number of deficiencies in infection control and other areas of patient care within two weeks or face losing Medicare and Medicaid funding. Of course, this would be most disastrous to the challenged population that Parkland is struggling to serve. No one wants to see funding cut (well, I shouldn’t try to speak for House Republicans). We can expect Parkland and CMS investigators to work together to make the hospital even better able to fulfill its very difficult mission.

I can’t help but wonder why the federal government is not suing DaVita in an attempt to recover federal health dollars that purchased medicine that literally was thrown into the trash. Parkland is one place where that money could do a lot of good.

 

 

‘Is There a Doctor?’ Part Two

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For the friends of Left on Longwood, It is shaping up to be a busy season for Good Samaritan medical adventures. A couple of days after I posted a piece on in-flight medical emergencies which included reflections on my own volunteer duty, Drs. Kathy and Rhea Sumpter had a harrowing experience on a return flight from the Northwest. A man in his late 20s who appeared to be intoxicated aspirated and lost consciousness. They stabilized his airway and provided rescue ventilation for about an hour until the plane was diverted for an emergency landing. They were met at the gate by paramedics who promptly intubated the man in the gateway. Of course, the doctors who saved the man’s life will never know if he made it out of the ICU or whether he suffered permanent neurological damage. Delving into the literature and industry stats, I was amazed by how frequent in-flight medical emergencies are. The first-hand experiences that many of you, our dear readers, have had only emphasize the point.

On Saturday, I was slowly making my way through the buffet queue at our synagogue. Shabbat morning service was pleasant and brisk. With lay members of the congregation leading services during summer vacations, things tended to run a bit ahead of schedule. The melodies of our Cantor’s incomparable singing played in my head and I hummed along.

“We need a doctor!” one of our congregation’s most charming members called out in his South African accent. He had rushed into the hallway from the seating area next door. His tone was alarming. Mostly snapped out of my reverie, I set down my plate of bagel and salads, and followed him through the doorway. I was thinking, “Oh shit, what is this going to be.” Then a hopeful thought, “Probably someone just vaso-vagaled” (after all, it was a gazillion degrees outside and plenty warm inside). At the first table, he directed me to an elderly man slumped over a plate brimming with food. Seven or eight other lunchers sat quietly at the table looking on.

The man was as white as the tablecloth. He was hunched over, motionless. I wasn’t sure if he was breathing, but he didn’t seem to be. I started calling out “Sir, are you OK” while trying to rouse him by shaking his shoulders. Nothing. I took his heavy, wrinkled hand and started hunting for a radial pulse. It took some time, too long. I started to feel sweat prickles of nervousness. I found a pulse but it was weak. I tried to find a carotid pulse in his doughy neck, also weak.

By this time, two other volunteers joined me. One of the gentlemen I recognized as an active member of the shul who had just chanted the week’s challenging Haftorah portion (he had already more than earned his lunch). We exchanged a couple of quick phrases and agreed to get the man down on the floor. We lifted him up and out of his chair, each with a firm grab of his baggy trousers. The man hunched over further, folding up on himself. We laid the man flat on the ground. Someone said that they were calling 911. The Haftorah-reader crouched at his head. The other physician and I were alongside his chest. The man was not breathing. I re-checked the radial pulse and could not find it. The man to my right said, “OK, I’m going to do some chest compressions”. He nested his hands, placed them on the man’s chest, and plunged twice.

I saw a plug of food come up into view in the back of the man’s throat through his parted lips. I pointed this out to my colleagues; we rolled the man up onto his side. The Haftorah reader swept his finger into the man’s mouth and pulled out a large chunk of plain bagel. The doctor to my right applied a few vigorous smacks on the back. We fished out more food. We rolled the man on to his back. After a moment, he started to breathe spontaneously. His airway was floppy and he seemed to do better with the help of a jaw thrust maneuver. I announced that his pulse came back and was strong. We rolled him up on his side several more times to clear out more food.

The doctor to my right said, “Ok, alright, we’ve got him back.” Someone dragged a couple of seat cushions over to the man’s feet and urged me to help him prop the legs up. The three of us conferred quietly. The chest compressions effectively dislodged the bolus of food. We speculated on whether the cardiac arrest preceded the choked airway, or vice versa. “I’m sure that I broke two or three ribs,” the doctor to my right said. I tried to assure him that there was no choice. The elderly man started to respond, we addressed him by the first name that was relayed to us.

It did not take long for the professionals to arrive, no less than eight Dallas paramedics in blue polo shirts and commando pants. They put the man on oxygen quickly. The first set of vital signs was a heart rate in the 80s, a blood pressure of 130-something over 70-something: encouraging. The three of us huddled off to the side and watched them move the man on to a stretcher. They did not seem to need to ask us what had happened, they already knew what they needed to know. We saw the man and the crew out to synagogue’s marble foyer.

The room settled down to the Saturday afternoon norm. People filed up to the front of the room, where I stood with the other doctors, to claim the choice desserts. Some people congratulated us, in Hebrew and in English, as though we had just read from the Torah. I held my plate of food, which someone had put off to the side, while conversing with the doctors. The man who did the chest compressions was an Ophthalmologist. He told a story about the last time he had to do chest compressions, years before in the lobby of a hospital. He joked that he was going to help out by doing a cataract operation while the other doctor and I resuscitated the man. The Haftorah-reader was an internist, a senior administrator of one of Dallas’ large hospital systems. He told us that he only occasionally works as a hospitalist. The man who was fussing around with propping up the man’s feet while we still were working on stabilizing the airway was an orthopedic surgeon.

This was a debriefing conversation. Although we were relieved that the man was alive, we were all rattled and worried that we had done the right things. We pointed out numerous things that could have gone better – we probably should have started with a few abdominal thrusts a la Heimlich maneuver before doing compressions. My initial assessment should have been faster. I should have had him down on the ground and started working on his airway immediately. Again I was disappointed that I had to work through moments of hesitation while trying to respond to the emergency. I worried that the already frail man was going to be in for an extended ICU visit and that he would still need to be intubated with a severely fractured chest wall. I realized that I was really hungry. I wanted to be polite and participate in the conversation, but really just wanted to sit down and eat.

The following day, the president of the synagogue (a role which must not be that far down from President of the United States on the list of impossible jobs) called. She is a wonderful woman, warm and welcoming with an unexpectedly sarcastic sense of humor. Coming from a medical family, she is well versed in all types of health emergencies. She waited at the entrance to direct the paramedic team and accompanied the ambulance to the hospital. When I asked about the gentleman, she responded in an ironic voice, “Discharged!” I was very surprised. I figured that he was in for a tough road and a long hospitalization. She told me that the doctors thought that he simply choked and that everything else checked out. The president thanked me repeatedly and kindly. She related the lucid conversation that she had with the man in the emergency room. He responded immediately when she asked him for the name of his doctor. When she asked, “Who is your cardiologist?” he replied, “Your husband!”

A Supermarket Check-out Consultation

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I typically do my marketing, as food people like to call food shopping, on Monday evenings. Dallas’ hungry hordes descend on the store over the weekend and on Monday the side-by-side Sub-Zeros are still full. Central Market, the food playground that combines the best of Whole Foods, Trader Joe’s, and a neighborhood specialty importer, has had a little bit of time to try to restock the shelves. In Boston, it seemed that the debate over where one should purchase food was a principal topic of dinner conversation. Fortunately, Central Market has ended that discussion in Dallas. We are free to move on to more important topics, like where our friends will send their kids to school, pedestrian safety on the Katy Trail, and eulogies for the final episode of “Friday Night Lights.”

Last night I steered my full-sized cart (this is Texas) into Central Market’s check-out bay, which looks like something like a branding chute for cattle. To my delight, there was an unoccupied cashier: a diminutive man, maybe in his late 50s, with a mustachioed smile, and a moderate paunch accentuated by his kyphotic posture. Although it was 105 degrees outside at 6:30, he wore a burly flannel under his green apron. His movement was lighter than one would expect, giving him a sprightliness. The nametag said “David” (it didn’t say that, but we’ll call him that) and “Fluent in Russian” (it did say that).

I took up a position at the end of the conveyer belt and arrayed my collection of cloth bags in front of me. Although I lack the skills of a professional, I like to help out with the bagging. At the end of the counter, I avoid the pain of standing at the register watching the total climb as the items go by the scanner.

As you have correctly guessed by now, I’m a talker. Just about all of the Central Market cashiers are more than happy to give the conversational muscles a stretch. I observed that it was not too busy in the store that afternoon. He shrugged, “I could not know this” in an accent almost worthy of Yakov Smirnoff’s “Vhat a country!” He had just started his shift, I was his second customer. He would need a little more time to gauge that evening’s crowd. I said, “Nice, you are just getting started.” David said, “Yes, but I’ve come from my first job.” I wondered if it was appropriate to ask what that might be. My curiosity got the best of me. Turns out that his first day job is at the Dallas Public Health Department. I said, “That’s great, I also work in health. I’m a pediatrician.” His small eyes lit up. He asked about my specialty (I guess I look like a specialist). He really got excited when I tell him that I am a pediatric rheumatologist. He set the white beans or the salad greens back in the cart and moved in closer as he asked, “Do you mean to tell me that children have connective tissue disease?”

Now I was intrigued. I explained that although uncommon, children do present with various forms of connective tissue disease: systemic lupus erythematosus, juvenile dermatomyositis, scleroderma, and others. Fortunately, these conditions are rare, although there are enough challenging kids to keep pediatric rheumatologists busy. David looked at me intently; he was taking this all in. “Now is this connective tissue one disease? Children get this also.” I resumed bagging, eyeing another customer queuing up at David’s register. I did my best to explain that connective tissue diseases are disorders of autoimmunity. Somehow, in these people, the immune system recognizes the body’s own tissues as an invading infection or as out of place foreign material. To counter the perceived threat, the immune system makes inflammation. This misguided inflammation injures tissue and causes organ damage.

David then asks, “So how can there be a treatment for this connective tissue disease?” My cashier distinguished himself by asking this insightful question. I think that he was trying to ask me how there could be just one treatment for so many diseases. I’m sure that I smiled my approval. I told him that he was exactly right. We treat connective tissue disease by suppressing the immune system with non-specific drugs in order to try to stop the damaging downstream inflammation. If we knew more about what causes the autoimmunity, we could hopefully find more specific treatments for each disease.

The bagging is complete and I swipe my card. David paused from loading the straining bags on to the cart. “My doctor tells me that I have this connective tissue disease.” After a beat, I offer, “But you look so well!” David continues, “Every so often I have pain in my legs and my shoulders, my muscles (I’m thinking polymyalgia rheumatica?, not something I typically diagnose). I’ll tell you, I take herbs. There is an herb that they make in Germany that is good for the inflammation. I don’t like to take medicine.”

I tell him that I’m very happy that the herbs are helpful and that the pain is under control. I can’t help but say that sometimes the herbs are not enough to control inflammation and in that case, fortunately, there are stronger medicines.

I come around the counter to shake David’s hand before collecting my cart.

“Yes, but I don’t like to take medicine.”

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