Name That Disease!
Last reviewed on January 26, 2011
By Robert H. Shmerling, M.D.
What if you discovered a new disease and were asked to name it? Would you name it after yourself? Would you feel honored if others wanted to name it after you? Or would you prefer to name it after the person with the illness, or perhaps the place where it was first discovered? Eponyms diseases or findings named after a person are common in medicine, so you may have heard of Huntington's chorea or Lou Gehrig's disease. You also may be familiar with diseases named for the place or circumstances of an early description of the condition, called toponyms: Lyme disease, named for the town in Connecticut, is a good example. Other common conditions named after people include Alzheimer's disease (a cause of dementia), Graves' Disease (a thyroid disorder), Raynaud's phenomenon (a circulation problem), and Hodgkin's disease (a type of cancer).
When a new flower is developed, its name is typically chosen by the person who discovered it honoring oneself or a loved one is typical. But naming a disease is not the same. A friend or family member may not appreciate being associated with a dreaded disease! And the person with the illness may not want the world to know about his or her medical problems.
In addition, the naming of diseases tends to occur over a prolonged period of time by a consensus of doctors, researchers and other peers of the discoverer. It is often unclear at the time of a disease's first description that it is truly new: The condition might be two or more established diseases occurring together as mere coincidence, or it could be an unusual manifestation of a well-established disease. Such confusion may last years the initial cases of Lyme disease were initially thought to represent an unusual collection of cases of juvenile rheumatoid arthritis. Professional organizations may be involved in "officially" naming an illness, so that everyone involved in its study and treatment call it the same thing.
There is no single way that illnesses are named, and, unfortunately, the best names do not always catch on even when a logical name is chosen and endorsed by a professional organization, it may not be the name that most people use. For example, to protect individuals' privacy, diseases are rarely if ever intentionally named after the person with the illness, but that's what happened with Lou Gehrig's disease. Although the official name is amyotrophic lateral sclerosis (ALS), this degenerative nerve disease continues to carry the name of Lou Gehrig, a baseball hero who tragically succumbed to the disease.
Perhaps it's self-evident that if you discover an illness you should be allowed to name it. But even if you did, the name might not stick. It's a bit hard to predict whether those who use the name most the people with the disease, the people providing medical care, and those who write about the disease will use an eponym or another designation. In fact, many diseases named after people or places have another "official" name (often assigned later, once more is known about the condition), and the names are used interchangeably. For example, "uveoparotid fever" is a condition marked by fever, parotid (salivary) gland and uvea (a part of the eye) inflammation; it occurs in persons with sarcoidosis, but it is also called Heerfordt's syndrome after a Danish ophthalmologist.
Legionnaire's disease and Lyme disease are among the best known and recent examples of illnesses named after the circumstances in which they were first described.
Legionnaire's disease was first reported among persons attending a 1976 American Legion convention in Philadelphia, Once the cause and nature of the illness was sorted out, it was named after the bacterial cause: Legionella pneumonia. Lyme disease is an infection caused by an organism called Borrelia burgdorferi that may cause rash, arthritis, heart and neurological problems. When several children in a neighborhood in Old Lyme, Connecticut, developed arthritis, investigation led to the identification of the bacterium in the intestinal tracts of ticks that were spreading infection to humans. The disease is named after the site of this early outbreak, while the organism that causes it is named after its discoverer, Willy Burgdorfer.
There are pros and cons to the naming of an illness after a person. The most obvious virtue of an eponym is that it honors those whose pioneering efforts led to the recognition of a previously unknown condition. Eponyms may remind us of the history involved or the situation in which the condition occurred. For example, Reiter's disease is named after Hans Reiter, who described the combination of genital, eye and joint inflammation in a German soldier who had recently recovered from a bout of dysentery.
On the other hand, eponyms do not themselves tell you anything about the condition. If the condition is encountered rarely, eponyms are notoriously hard to remember the condition corresponding to the name must be memorized. A different name might be much more useful, as is true for the example of Heerfordt's Syndrome. Since it is rare, health care professionals who do not deal with the condition often must try to recall what it is from when they learned years earlier during training, or must read about it to be reminded of the meaning; uveoparotid fever at least provides some information about the condition that the eye (uvea), the parotid gland (a major salivary gland), and fever are involved in this disease.
There are other drawbacks to naming diseases after people or places:
Don't be put off by eponyms. Even though they may seem to lend an air of legitimacy, they are no more than a convention, supported by history and the fact that health care professionals, like most people, resist change. While they may be better used as questions for trivia contests ("If you had Gerstmann's syndrome, would you have trouble walking, breathing, or remembering names?") we are probably stuck with eponyms. To better understand what your doctor is saying, it is helpful to know something about the common eponyms and where to find out more about the rarer ones. To learn more, visit this helpful Web site: www.whonamedit.com. And by the way, if you had Gerstmann's syndrome, your major problems would be with brain function, including the recall of names!
Robert H. Shmerling, M.D. is associate physician at Beth Israel Deaconess Medical Center and associate professor at Harvard Medical School. He has been a practicing rheumatologist for over 20 years at Beth Israel Deaconess Medical Center. He is an active teacher in the Internal Medicine Residency Program, serving as the Robinson Firm Chief. He is also a teacher in the Rheumatology Fellowship Program.