Don't Abandon the Case Report in the Race for Big Data

Julian L. Seifter, MD


September 03, 2015

The Individual Narrative of a Case Report

Julian L. Seifter, MD

I'm sitting at grand rounds in the amphitheater of the Brigham and Women's Hospital. Historically, grand rounds was a once-a-week clinical presentation, followed by discussion of the basis of the disease. This way of learning about disease was established back in the 19th century by William Osler at Johns Hopkins; he had borrowed it from the French, who instituted rounds on the hospital wards as a way of training young doctors. Basically, a grand rounds presentation was a case report in the service of pedagogy.

These days, it's different. Usually, there is no case to start the discussion and illustrate the topic under review. This disappearance of the case is part of a widespread tendency to reduce the number of such reports in journals and lectures.

Anyway, I'm sitting in the amphitheater, listening to the speaker and looking up at the faces on the walls, portraits of previous giants—former chairs of departments of medicine, surgery, and pathology—going back a full 100 years at the Brigham. The names of many of these figures are attached to diseases they described: names such as Christian, Councilman, Weiss.

At the turn of the century, the Peter Bent Brigham and Johns Hopkins Hospitals provided an educational model in which residents were in the hospital for long stretches (ie, they were called "residents" because they "resided" there), and the patients were there for a long time, too. The patients were the data, and the housestaff were expected to assimilate their observations of the patients. Those detailed observations were, in fact, a central part of medical diagnosis and treatment. When you look at the bibliography of any of these wise elders, you see intricate accounts of disease as an individual experienced it.

Back then, there were fewer specialties, and an internist encountered and treated a wide array of disease, with many more unknowns; in this situation, description became an important avenue to insight. Nowadays, most medical schools feature problem-based learning using case studies, with the same idea that a case report can teach and contextualize concepts, particularly when an experienced clinician leads the discussion. The irony is that the case is on paper and is often invented, as opposed to representing the report of an actual person.

One of the aspects of medical treatment that's been diminished in recent decades is the notion of the individual patient. Sixty some years ago, Soma Weiss—one of those faces up there on the amphitheater wall—wrote a seminal case on endocarditis that was in essence the report of his conversations with and observations of a patient, a young intern. Weiss listened not only to the patient's symptoms but to his experience, as a way of expressing compassion and responding to the whole person.

While appreciating that evidence-based studies of large demographics yield immensely important data, I believe that we should not stop thinking about the individual narrative. The experience of the individual has multiple dimensions, from the unusual side effect to a specific psychological response, and it deserves the attention of the physician.

Observation May Yield Discovery

Besides offering a detailed view of an individual, the case report is often a useful way of approaching the unknowns in medicine. Depending on personality, many doctors don't cope well with the unknown, becoming frustrated when they can't figure something out. In textbooks, you get the classic description, and many doctors are only satisfied if they see something that they recognize as a pattern: They've seen it before, or it's described in the literature. But if it's new or atypical—a forme fruste (the medical term for an unusual form of a disease)—they are bewildered or frustrated. Examples include seronegative vasculitis or atypical angina. Nonclassic presentations that go unrecognized and unreported lead to unnecessary testing and risk.

Case reports are helpful in this instance, because they teach precisely about the unusual or novel finding or presentation. Such cases are used in classroom pedagogy, to help trainees see the range of presentations. Reporting cases or case series in journals may represent discovery—that is, the first description of something completely new.

Here's a story from my medical school days regarding FMF: familial Mediterranean fever, a common cause of kidney failure in Jordan, Israel, and other countries in that region. FMF is an inflammatory condition that affects the peritoneal and pleural membranes. I saw a report in the New England Journal of Medicine describing the serendipitous remission of FMF in a patient who took colchicine, a medication used to treat gout.[1] This chance observation raised a lot of interest in whether colchicine with certain known properties could be used to treat this otherwise untreatable disease, leading to animal studies and human trials that investigated the effect of colchicine not only on FMF but also other causes of amyloidosis. This small blip of an observation led to a significant treatment.

Here's another example: For half a century, ulcers were thought to be related to aspirin or unspecified stress or spicy foods, and the recommendation was the Sippy diet—eat bland foods, drink cream, steer clear of spices. Now we know that the majority of ulcers are caused by a bacterial infection, Helicobacter pylori. Who would ever have thought this?

In a paradigm shift, the definitive report was made by Barry Marshall, who, with Robin Warren, won a Nobel Prize for his work.[2,3] Although Warren had discovered H pylori bacteria in biopsies of patients with stomach cancer and peptic ulcers, no one accepted the causal connection until Marshall made himself the subject of his own case report. Taking some H pylori from the gut of a sick patient, he stirred it into a soup and drank it; when he developed severe gastritis, he biopsied his own gut and cultured H pylori, proving his thesis and changing the treatment of ulcers from a useless dietary intervention to highly effective antibiotics.

And one last example of the power of the case report: Archibald Garrod's groundbreaking insight into the inborn error of metabolism that caused alkaptonuria.[4] It grew from the observation of a single patient after ingestion of a protein meal; his urine turned black not in the 1-2 hours after the meal, as would be expected if the transformation occurred through the action of bacteria in the intestine, but in 2-3 hours, indicating that the metabolism of alkapton (later called "homogentistic acid") was occurring in the tissues via an inborn error.

This insight was further developed through Garrod's study of some 40 patients with alkaptonuria, 34% of whom were the offspring of consanguineous marriages between first cousins, pointing to the fact that the disease was autosomally recessively inherited. A later case report indicated that it was also congenital: Garrod closely observed a mother with one affected child giving birth to a second, whose diaper turned black within 52 hours of delivery.

These kinds of insights depend on observation of individuals. The categorization of any new disease—the classic example is HIV—begins with the report of a sick patient who has an unusual finding or symptom. And observation encourages openness, creativity, and originality—the leap to a new understanding, the discovery of a new treatment.

I believe that the close observation underlying case reports can allow a doctor to be creative and innovative. In our current era of efficiency and guidelines, we must maintain room for the open mind and perceptive eye that can recognize something new or assess a forme fruste.

We should not consign the case report to the ash heap of history. There are glowing embers there that can spark new thoughts.


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