Is it better to name a genetic disorder Potocki-Lupski syndrome or the 17p11.2 duplication syndrome? What about Addison’s disease as opposed to adrenal insufficiency? Or Tay-Sachs disease versus hexosaminidase alpha-subunit deficiency (variant B)?
If you have a strong opinion about which is preferable, you aren’t alone: there is an ongoing controversy on how to name diseases. In Western science and medicine, a long-standing tradition is to name a disease after a person. However, many physicians now argue that these eponyms should be abandoned for biologically-descriptive names.
First, a bit about how eponyms are created.
Although the media sometimes comes up with a catchy name that sticks, like swine flu, diseases are typically named by scientists when they first report them in scientific publications.
Oftentimes, diseases are named after prominent scientists who played a major role in identifying the disease. The example that leaps to my mind is Hodgkin’s disease — a type of cancer associated with enlarged lymph nodes — because I was diagnosed and treated for Hodgkin’s at Stanford years ago. Hodgkin’s disease was named after Thomas Hodgkin, an English physician and pathologist who described the disease in a paper in 1832.
Less frequently, diseases are named after a famous patient. For example, amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig’s disease, was named after the famous New York Yankee baseball player who was forced to retire after developing the disease in 1939.
As these examples show, one of the reasons to keep eponyms is that they are embedded with medical traditions and history. They include some kind of story. And, oftentimes, they honor key people associated with the disease.
“I think the people who discover these conditions deserve recognition,” explains Angela Primbas, MD, a resident physician at Stanford. “I don’t think the medical community would know their names otherwise.”
Some physicians also feel eponyms bring color to medicine. “The use of eponyms in medicine, as in other areas, is often random, inconsistent, idiosyncratic, confused, and heavily influenced by local geography and culture. That is part of their beauty,” writes Australian medical researcher Judith Whitworth, MD, in an editorial in BMJ.
Other proponents of eponyms are more practical. They argue that eponymous disease names provide a convenient shorthand for doctors and patients.
Medical eponyms are also widely used by patients, physicians, textbooks and websites. According to a dictionary of medical eponyms, thousands of eponyms are used throughout the world particularly in the United States and Europe. They are even prominent in the World Health Organization’s international classification of diseases.
So is a massive effort to purge these eponyms worth it, or even realistic?
“There are certainly examples where eponymous disease names are so inculcated in medical vernacular that changing them to a pathology-based name might not be worth the effort,” says Vishesh Khanna, MD, a resident physician at Stanford. He gives the examples of Alzheimer’s disease and Crohn’s disease.
Jimmy Zheng, a medical student at Stanford, agrees that eponyms are here to stay. “At the level of medical school, eponyms are broadly dispensed in class, in USMLE study resources and in our clinical training,” Zheng says. “While some clinicians have called for the complete erasure of eponyms, this is unlikely to happen.”
Zheng and Stanford neurologist Carl Gold, MD, recently assessed the historical trends of medical eponym use in neurology literature. They also surveyed neurology residents on their knowledge and attitude towards eponyms. Their study’s findings were published in Neurology.
“Regardless of ‘should,’ our analyses demonstrate that eponyms are increasingly prevalent in the scientific literature and that new eponyms like the Potocki-Lupski syndrome continue to be coined,” Gold says. “Despite awareness of both the pros and cons of eponyms, the majority of Stanford neurology trainees in our study reported that historical precedent, pervasiveness and ease of use would drive the continued use of eponyms in neurology.”
So the debate rages on. According to my informal and small survey, some Stanford physicians favor eliminating eponymous disease names — stay tuned to find out why.
This is the beginning of a two-part series on naming diseases. The conclusion will appear this week.
Photo via Good Free Photos
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.