Playing the Ponies and Other Medical Mysteries Solved

Stuart B. Mushlin

• Publisher: Rutgers University Press
• Year: 2017
• ISBN:
  9780813575155
• Topic: Medicine
• Subtopic: Internal Medicine & Diagnosis

With over forty years of experience as a sought after diagnostician, Dr. Stuart Mushlin has cracked his share of medical mysteries, ones in which there are bigger gambles than playing the ponies at the track. Some of his patients show up with puzzling symptoms, calling for savvy medical detective work. Others seem to present cut-and-dry cases, but they turn out to be suffering from rare or serious conditions.
 
In Playing the Ponies and Other Medical Mysteries Solved, Dr. Mushlin shares some of the most intriguing cases he has encountered, revealing the twists and turns of each patient’s diagnosis and treatment process. Along the way, he imparts the secrets to his success as a medical detective—not specialized high-tech equipment, but time-honored techniques like closely observing, touching, and listening to patients. He also candidly describes cases where he got things wrong, providing readers with honest insights into both the joys and dilemmas of his job.   
 
Dr. Mushlin does not just treat diseases; he treats people. And this is not just a book about the ailments he diagnosed; it is also about the scared, uncertain, ailing individuals he helped in the process. Filled with real-life medical stories you’ll have to read to believe, Playing the Ponies is both a suspenseful page-turner and a heartfelt reflection on a life spent caring for patients. 

Great Imitators, Part 1

One of the reasons I was attracted to internal medicine as a medical student was the adventure of figuring out how to diagnose the great imitator diseases. At conferences, an esteemed clinician would often be given a particularly opaque case for diagnosis by a smug chief resident (who knew what the correct diagnosis was), and the clinician would test the case against the great imitators, those diseases whose manifestations are so protean and difficult to parse that they have to be mentioned in any complex situation.

As a young clinical student, I was fascinated by how these experienced clinicians could raise, and discard, these great imitators, focusing in each case on what was characteristic of the illness and how the patient’s condition just didn’t quite fit. I hoped that, one day, I would have enough experience to know why, for example, a case could not be sarcoidosis but instead was more typical of amyloidosis, and why, unless we had more information, we could not exclude systemic lupus or, even possibly, systemic mastocytosis—you get what I mean. Since those long-ago days, I have always hoped that a great imitator illness would walk into my office, and I hoped, humbly, that I would have the knowledge and perseverance to figure out what it was. Here is one instance.

Mr. K. was reasonably healthy. I had inherited him from a colleague who had recently retired. The patient had seen a couple of doctors prior to visiting me, and essentially he was interviewing me to see if we were a good fit. This is something I have never minded, as I feel it is always a productive use of our mutual time to find out something about each other’s style. And should a patient decide that he and I are not a good fit, it is better to find out early, before some serious problem is before the both of us, with the patient clearly having no confidence in my abilities or persona.

Mr. K. was a middle-aged Vietnam War veteran who, after the war, had become a criminal lawyer in Boston. He was quite a character—his worldview was very cynical, and it was colored by the industrial quantities of vodka with which he fueled his days. Aside from his excessive drinking, he was otherwise healthy, moderately overweight, a nonexerciser, but no other red flags. He was happily married with three good kids, one of whom, he was proud to tell me, was a freshman at Harvard College. He knew I found him to be a character, and sensing he had an interested audience, he entertained me in this first visit with stories of criminals, bent judges and legislators, and the best places in town to get chowder.

His exam was unexceptional but for a slightly enlarged liver. I counseled him about drinking, asked about guns at home (none), and drew some labs. The labs were not bad, but his liver tests were a little elevated. When the liver is being pickled with booze, usually two hepatocellular (liver) enzymes are elevated, and usually in a certain ratio. My new lawyer friend had mild elevations of these enzymes, but in a 1:1 ratio, and what was truly elevated was a different enzyme called an alkaline phosphatase.

As in so many situations in my world, when you start turning over rocks, you find even more rocks that have to be turned over. I called the patient a few nights later, told him about the liver tests, and used those results as a platform to say that he really should cut back on the drinking. But I also shared that the profile of the liver abnormalities was a bit unusual, and I wanted to repeat his tests in around three weeks. He was amenable: He agreed to try to cut back on his vodka martinis, and he agreed to have the repeat labs. And when he did come back for the repeat testing, all of his liver tests were normal.

Happily, I told him to keep up the good work and thought nothing more about it. I saw him again around eighteen months later. He was in for a general checkup, and he told me he had continued to drink in moderation, as both his wife and I had “put the fear of God in him” about his liver. So it was a bit of a surprise when, on repeat liver testing this go-round, his liver tests were quite a bit more abnormal and, again, the alkaline phosphatase test was much higher than the hepatocellular enzymes. Feeling guilty, and worried that the lab test results eighteen months earlier were a lab error or mix-up, I pulled out a lot of stops. I ordered an ultrasound of the liver, which did not show masses or a blocked or inflamed gall bladder and, indeed, looked quite normal. I ordered a lot of liver tests: screens for liver cancer and viral hepatitis (in all its forms), screens for liver inflammations like primary biliary cirrhosis and iron overload. I also checked for a copper transport disease that affects the liver, Wilson’s disease.

All negative. And repeat liver tests after this big workup were negative once again. Now this cynical criminal lawyer was looking at me, thinking that I was some sort of idiot—I had ordered a lot of blood testing, now several times, and ultrasound studies. He felt fine, and I felt stupid. It was clear my patient was not too impressed with my diagnostic acumen.

I try to keep my ego in check when I deal with patients, so in spite of my embarrassment, I tried to feel what the patient across from me was feeling, and, as has so often happened in the past, it helped me find a way to be helpful. I told Mr. K. that I would like to run his case by an esteemed and very senior colleague who had written the Textbook of Gastroenterology some years ago. I said that I would like to run his situation by my colleague, and perhaps I could ask my colleague to see him. I could see the patient knew I was trying, and he said, “No more doctor visits, no more blood drawing. Just talk to the guy and let me know.”

I did talk to my colleague (I bought him lunch in our cafeteria two days later) and told him all I knew. He was also at a loss. He graciously offered to see the patient, but I told him that, currently, that was a nonstarter. We agreed to stay in touch, and my colleague reassured me that, in his experience, an answer would always eventually declare itself.

A few years went by, and I continued to see Mr. K. as a patient. Most visits were for annual checkups, but occasionally he had the odd cough or cold. He continued to drink in moderation. By then he had put two of his three children through college, and his eldest, the apple of his eye, was at Boston College Law School.

Then one day he came in with a rash. Most internists are only fair dermatologists. Common things, like allergic reactions to poison ivy, are easy. So, too, in our area, is Lyme disease. Psoriasis is very common and easy to diagnose. So are the simple skin cancers. But my patient had a few raised reddish lesions on his left arm and a similar, but larger, one on his left leg. The margins of the lesions were a bit firm, and I got the sense that the lesions extended to his subdermis (the lower layer of the skin).

I was puzzled (once again) and sent Mr. K. to a dermatologist for a diagnosis, and I warned him that the dermatologist might want to do a biopsy. He was amenable, but when he appeared in her office eight days later, the lesions were almost completely gone. There was just a little discoloration to the skin, but all the firmness was gone. The dermatologist thought a biopsy would not be productive and gave the patient an emollient to speed healing.

I do my best thinking in the early morning, when it is quiet and my mind is not cluttered with a million things. And, truth be told, I probably do my very best thinking during my morning shower. Often the thinking that is going on is in the deepest part of my brain, and I am unaware of my insight until, like the Loch Ness Monster, it arises from the depths.

I called Mr. K. that day and said I wanted to talk about his service in Vietnam. He started to tell me what life was like as a marine and the way people treated him when he came back (which was poorly). I stopped him midsentence and asked, “Did you ever have leave?” “Sure, Doc,” he replied. “We had R & R [rest and recreation] in Subic Bay in the Philippines, and also in Perth.” “Did you ever get the clap?” I asked. He paused, then said, “Doc, everybody got the clap.” I asked if he had been treated for it, and he said, yes, he got one shot of penicillin. I asked if he had been ever diagnosed with syphilis, and he said, no, not to his knowledge. I told him that the fleeting liver tests, and now the fleeting skin lesions, could represent very old syphilis. The only way to tell was to do some further blood tests.

He wasn’t thrilled about the prospect, and he was worried that, if it were true, he had harmed his wife. But I told him that, if he did have syphilis, the causative agent—Treponema pallidum—was contained within his body, and he was not a risk to her. He came in for tests. The initial screening test we did, called a VDRL test, was positive with a low titer. A very specific follow-up test for the Treponema, called an FTA-ABS test, was also positive.

My patient was at the mercy of one of medicine’s great imitators, syphilis. Almost certainly it was acquired during his recreational activities when he was a marine. It went undiagnosed and remained mostly dormant in his body, except when it reemerged and caused lesions that were fleeting and, until now, unexplained.

When syphilis is untreated, the body may heal itself completely. Or, in around 20 percent of cases, the disease can go on the down-low and hang around the body but not cause much harm for some years. When it does cause harm, it does so in one of two (usually mutually exclusive) ways: It can cause fleeting groups of oval granulomas (masses of tissues) in various organs. Syphilitic granulomas are called gummas, and it was the gummas that appeared on his skin that enabled me to think of the diagnosis for his condition. Undoubtedly, but unproven, the fleeting gummas in his liver caused the intermittent elevations of his liver function tests. The gummas do contain active treponema spirochetes.

The other way late latent, or tertiary, syphilis (as it is called) manifests itself clinically is in the central nervous system. There it causes two large categories of disease (again, usually one or the other, but not both). One is called general paresis of the insane, in which executive function is compromised: The patient may be without the usual checks in personality and may act bizarrely, be depressed, or become psychotic. It is said that Winston Churchill’s father, Sir Randolph Churchill, had general paresis and would pound on the desks in the House of Lords, screeching like a monkey. The other central nervous system manifestation is in the posterior columns of the spinal cord. By damaging these, and the ganglia leading to them, late latent syphilis severely impairs a patient’s ability to sense position and maintain balance. Indeed, in the Prussian Army in the late nineteenth century, one test of the soldiers for late latent syphilis was to have them stand at attention and close their eyes—if they fell on their face, they were deemed to have late latent syphilis.

But late latent syphilis can have other effects on the body, which is one of the reasons it is called a great imitator. Back in the beginning of the twentieth century, the great Canadian physician Sir William Osler stated that “to know syphilis is to know all of medicine.” Because the disease was very common in Western Europe, much intellectual effort was made, and financial expenditure given, to find an antidote or curative therapy. The heavy metals, such as gold and arsenic, showed some promise, and Salvarsan, a therapeutic arsenic compound, was used with modest success. But it was the serendipitous discovery by Alexander Fleming of penicillin, extracted from the penicillium mold, that proved to be curative. To this day, the treponeme is quite sensitive to low-dose penicillin if administered over a few weeks. This is the treatment that Mr. K did not get. What he got was a blast of penicillin, just once, and that treatment was inadequate. Penicillin leaves the body quickly unless it is bound to a slow-release platform. That onetime penicillin shot did not cure Mr. K.’s disease, which instead went quiet for years, only to recur as a diagnostic puzzle. He endured a lumbar puncture for more lab tests to see if there was evidence of syphilis in his central nervous system. As he had a low titer there but no manifestations, my infectious disease colleagues recommended he have a daily three-week IV infusion of moderately high-dose penicillin. It seems to have worked. Mr. K. has had no recurrence of any symptoms, and he invited me to his son’s law school graduation, which I was happy to attend.

Great Imitators, Part 2

Tuberculosis played a large part in my life, and it undoubtedly contributed to my becoming a physician. I grew up surrounded by its effects, and, as is characteristic of the illness, it continues to lurk all over the world, killing the impoverished, the imprisoned, and the unwell, as though antibiotics to treat it never existed.

My father was a first-generation American. His parents were immigrants, and they were poor. Once in the United States, they lived in close quarters in tenements in New York City. My father had three siblings, and his next-eldest brother came down with tuberculosis in adolescence. Soon, thereafter, so did my father. Their exposure was probably from a frail uncle who had lived with them in their early years. Extended families living in very close quarters were the norm, making them a fertile breeding ground for the spread of tuberculosis.

Both of these young men came down with the disease during the Great Depression, when the family had no money. Worse, having a family member with tuberculosis (or, as it was generally called, consumption) stigmatized a family, so the family took pains to hide it. Although doctors were expensive, they were consulted. The older brother was deemed to have a severe case of the disease, and he was sent to a public tuberculosis sanatorium in Upstate New York. In the early twentieth century, until the late 1950s, most states had such sanatoria. They were there not only to treat patients but also to isolate them from the general population, and as inmates of state sanatoria, patients became wards of the state. Soon after his older brother was shipped off to the sanatorium, my father became more ill and joined him. Within eighteen months, his older brother was dead. They were close, but there was no survivor guilt; my father was focused on staying alive. As he was a ward of the state, he learned how to make peace with institutions: how to not struggle against a system, how to perceive the larger system around him, and how to focus on life when he was surrounded by people who were dying. On his own initiative, he got a scholarship to Trudeau Sanatorium in Saranac Lake, New York, a private sanatorium with a good reputation for its cure rate and its modern attitude. Many well-to-do patients were there, as well as many physicians-in-training, as young interns and residents were at high risk for coming down with tuberculosis in those days. My father had to do work-study while there (helping to collate patient charts and tabulate patient statistics), and he was housed in a small cottage with three other roommates. Those in the cottages on the grounds of the sanatorium who survived often became lifelong friends.

There were no antibiotics for the treatment of tuberculosis then. Sulfa compounds were just coming into wide use, but sulfa is useless against the bacteria that cause tuberculosis. The mainstay of treatment was rest and exposure to cold air. I have pictures of my father smoking on the porch of his cottage in a bulky raccoon coat in the height of the Adirondack winter. In his case, the standard treatment was not successful, and his illness worsened. So he was treated by resting his most affected lung. This was done by taking him to a room—imagine an old 1930s movie image of a white enameled hospital outpatient room—where a large syringe was inserted into his thorax and air was instilled into the lining of one of his lungs. This instilled air broke the vacuum that normally allows the lung to expand, thereby collapsing that lung. When my father was in his eighties, he still had vivid memories of the sudden feeling of impending doom that the procedure caused him to feel when he was a young man. He was fortunate that the procedure, first on that one side, and later on the other, seemed to help. For others, the procedure resulted in portions of their lungs being surgically resected, as they became actively infected, with the infections spreading to the less-infected areas of the lungs.

Over time, my father slowly improved. He lost his scholarship when finances became tight at the sanatorium, and he was transferred to a state facility. Amid all this uncertainty and medical wandering, he had the good fortune to meet a young nurse whom—many years later, and when it was clear he would live—he married.

By the early 1950s, new drugs had been developed that were very effective for tuberculosis. My father was given a course of them, the thinking being that, although his disease was inactive, tuberculosis always had a predilection to recur, especially if the patient became globally unwell from other causes. The new antibiotics were so powerful, and the bacteria were so naïve in regard to these drugs (they had not been exposed to them before), that the treatment courses were successful. And my father, who lived to his mid-eighties, did not succumb to tuberculosis. He succumbed to heart failure—no doubt abetted by his smoking cigarettes while bored and wondering if he was going to die in the Adirondack Mountains of New York State.

The bacterium that causes tuberculosis is a clever symbiont of Homo sapiens. Genetic profiling has shown that it is around seventy thousand years old, and it seems to have emerged out of Africa, along with humanity. It appears that, in contrast to many other infectious agents, it didn’t jump from domesticated animals to man, as seventy thousand years ago there were no domesticated animals. And as H. sapiens has become more urbanized, the mycobacterium that causes tuberculosis has also diversified to better survive.

The tuberculosis bacterium has a winning evolutionary package that has enabled it to survive, and even thrive, during this age. It has infected probably one-third of the world’s total population, doing best among people living in crowded conditions and people who are malnourished. It has gotten a big boost from the evolution of the HIV virus, whose ability to impair immunity has allowed tuberculosis to flourish.

Many famous people have died from the disease, including authors such as Robert Louis Stevenson, the Brontë sisters, John Keats, Franz Kafka, and George Orwell. Disseminated tuberculosis was called consumption because of the wasting it caused prior to killing you: It “consumes” you. It was also called the White Plague because many of its victims suffered from severe anemia, becoming extremely pale. And, of course, the illness has played a role in the public imagination. Hans Castorp in Thomas Mann’s Magic Mountain was in a Swiss sanatorium. Mimi in La Bohème dies of consumption in Puccini’s opera, as does Violetta in Verdi’s La Traviata. Readers and theatergoers of the time knew well the role—both literal and metaphoric—of the disease in these story lines.

So how does the mycobacterium do its work? One, with rare exception, would acquire tuberculosis by inhaling the mycobacterium from infected droplets—the inoculum—that has been coughed up by a person with active pulmonary tuberculosis. The inhal...