A few months ago, a nephrologist called me about a young, previously healthy health care worker who presented with an altered mental status, rapidly progressive renal failure, and rhabdomyolysis. It was an unusual combination of symptoms, and he had already ruled out the first things that came to my mind: drug toxicity, illicit drug use, thrombotic thrombocytopenic purpura-hemolytic-uremic syndrome. He wanted to know if I’d ever seen myositis present in this manner. I had not and could not think of ever having come across this as a possibility.
After powwowing with my bosses and coming up empty handed, I did what I do in these circumstances: I went to PubMed. Apart from illicit drug use, it seemed this constellation of symptoms was quite unusual. But there was one case report in an obscure emergency medicine journal from the 1980s, or perhaps it was the 1970s, of a patient that presented in just this manner and turned out to have Legionnaires’ disease.
I called the nephrologist back and told him about the case report. Although the patient had not reported a cough, he ran the test, and it came back positive.
Randomized, controlled trials are the philosopher’s stone of the scientific method, turning individual anecdotes into generalizable information, useful for large numbers of patients. But when doctors see unusual cases, we are often left with nothing but our own store of medical knowledge, informed by experience, imagination, and inquisitiveness. Intelligent speculation, to be sure, but hardly comforting to patient and physician alike.
It can be reassuring to know that other people have come across such unusual cases, just as it can be gratifying to know that our peers are interested in hearing our stories as well.
Counterfactuals are hard to come by in medicine, and we will never know what would have happened to the patient had I not seen that case report on PubMed. But the bias against case reports is such that it is probable that many illnesses remain undiagnosed simply because similar cases were deemed unworthy of publication.
There ought to be a repository of well-curated case reports. We are, all of us, made up of stories after all. And the stories that we tell are the art that temper this science we call Medicine.
Dr. Chan is a rheumatologist in Pawtucket, R.I.