Friday, February 15, 2008

How are diseases named?

Is there a general rule for naming human diseases? No. Here is a list of some of the many ways by which diseases get their names.

1 As an an expression of a characteristic pathologic process (e.g., muscular dystrophy)

2 For the physical agent that produced the disease (e.g., plumbism)

3 For a group of people who were at high risk for the disease (e.g., Legionnaires' Disease, named after a group of conventioneers who succumbed in an early outbreak)

4 For a molecule found in diseased cells (e.g. amyloidosis, prion disease)

5 For a geographic region in which occurrences of the disease are concentrated (e.g.,Tangier Disease from Tangier Island, Maryland)

6 For the geographic spot from which a widespread epidemic emanated (e.g., Lyme disease from Lyme, New York)

7 For a striking clinical feature of the disease (e.g.,sleeping sickness) )

8 As a crude and insensitive comparison to an non-human object (e.g., gargoylism, ichthyosis with confetti, happy puppet syndrome)

9 As a literary metaphor (e.g., Pickwickian syndrome, Mad Hatter's disease, Alice in Wonderland syndrome, Job's syndrome)

10 For a striking morphologic feature (e.g., sickle cell anemia)

11 For a patient who had the disease (e.g., Lou Gehrig disease)

12 For physician or scientist who treated, described or researched the disease (e.g., Hodgkin disease, Cushing disease, Kaposi sarcoma)

13 As a witty but unhelpful acronym (e.g. CATCH 22 = cardiac abnormality,abnormal facies, t-cell deficit due to thymic hypoplasia, cleft palate, hypocalcemia resulting from a deletion on chromosome 22)

14 As a trope or descriptive metaphor from any existing language (e.g., Moyamoya disease derives from "moyamoya" meaning "puff of smoke" in Japanese,for the characteristic tangle of tiny cerebral vessels seen on x-ray)

15 As a token of Greek or Latin scholarship (e.g., pityriasis lichenoides et varioliformis acuta)

16 As a somewhat obscure and trivial fact that would be understandable only to experts (e.g., one and a half syndrome, which refers to a specific neurologic condition in which one eye acquires movement deficits, while the other eye acquires half of those deficits)

17 As inscrutable combinations of one or more of the above (e.g., the wistful-sounding "floating-harbor syndrome," named by combining the hospital in which one of the first case appeared, Boston Floating Hospital, and for a second hospital in which another case appeared, Harbor General Hospital in Torrance, California)

This list was taken from my book, Biomedical Informatics (List 7.3.1).

In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases.

I urge you to read more about my book. There's a generous preview of the book at the Google Books site. If you like the book, please request your librarian to purchase a copy of this book for your library or reading room.

- Jules J. Berman, Ph.D., M.D. tags: common disease, orphan disease, orphan drugs, genetics of disease, disease genetics, rules of disease biology, rare disease, medical nomenclature, names of diseases, disease terminology, pathology, logophile, medical metaphor, medical terminology, pathologic process, pathophysiology, anatomic pathology, naming diseases, names of diseases, literary medicine, history of medicine