List of eponymously named diseases

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An eponymous disease is a disease, disorder, condition, or syndrome named after a person: usually the physician or other health care professional who first identified the disease; less commonly, a patient who suffered from the disease; rarely, a fictional character who exhibited signs of the disease; and, in some few instances, after such as an actor or the subject of a literary allusion, because characteristics associated with them were suggestive of symptoms observed in a particular disorder.

Naming systems[edit]

Eponyms are a longstanding tradition in Western science and medicine. Being awarded an eponym is regarded as an honor: "Eponymity, not anonymity, is the standard."[1] The scientific and medical communities regard it as bad form to attempt to eponymise oneself.[2]

Ideally, to discuss something, it should have a name. When medicine lacked diagnostic tools to investigate and definitively pinpoint the underlying causes of many diseases, assigning an eponym afforded physicians a concise label for a symptom cluster versus cataloguing the multiple systemic features that characterized the patient.

Some diseases are named for the person, most often a physician, but occasionally another health care professional, who first described the condition — typically by publishing an article in a respected medical journal. Less frequently, an eponymous disease is named after a patient, examples being Lou Gehrig's disease, Hartnup disease, and Mortimer's disease. In one instance, Machado–Joseph disease, the eponym is derived from the surnames of two families in which the condition was initially described. Instances also exist of eponyms named for fictional persons who displayed characteristics attributed to the syndrome; these include Miss Havisham syndrome, named for a Dickens character, and Plyushkin syndrome, named for a Gogol character (the two also happen to be alternative names for the same symptom complex). At least two eponymous disorders follow none of the foregoing conventions: Fregoli delusion draws its name from an actor whose character shifts mimicked the type of delusion it now describes; Munchausen syndrome derives from a literary allusion to Baron von Munchausen, whose personal habits were suggestive of the symptom cluster associated with it.

Disease naming structures which reference place names, such as (Bornholm disease, Lyme disease, Ebola virus disease, and Wuhan virus disease, ) are properly termed toponymic, although an NLM/NIH online publication described them as eponymic[3]. Similarly, diseases named for societies, as in the case of Legionnaires' disease, are not eponyms, nor are those named for their association with a particular occupation or trade, examples including nun's knee, tennis elbow, and mad hatter's disease.

In May 2015, the World Health Organization, in collaboration with World Organisation for Animal Health (OIE) and the Food and Agriculture Organization of the United Nations (FAO), released a statement on the Best Practices for the Naming of New Human Infectious Diseases "with the aim to minimize unnecessary negative impact of disease names on trade, travel, tourism or animal welfare, and avoid causing offence to any cultural, social, national, regional, professional or ethnic groups."[4] These guidelines emerged in response to backlash against people and places, based on the vernacular names of infectious diseases such as Middle East respiratory syndrome, and the 2009 swine flu pandemic. [5] These naming conventions are not intended to replace the International Classification of Diseases, but rather, are guidelines for scientists, national authorities, the national and international media and other stakeholders who may be the first to discuss the diseases publicly.

Punctuation[edit]

In 1975, the Canadian National Institutes of Health held a conference that discussed the naming of diseases and conditions. This was reported in The Lancet where the conclusion was summarized as: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder."[6] Medical journals, dictionaries and style guides remain divided on this issue. European journals tend towards continued use of the possessive, while US journals are largely discontinuing its use.[7] The trend in possessive usage varies between countries, journals, and diseases.[8]

The problem is, in fact, that the possessive (case) was given its misleading name for historical reasons and that now even educated people, if they are not linguists, often make incorrect assumptions and decisions based on this misleading name. Nevertheless, no native speakers would accept the ungrammatical "men department" as a possible way of saying "men's department" nor claim that this "possessive" and obligatory apostrophe in any way imply that men possess the department.

This case was called the genitive until the 18th century and (like the genitive case in other languages) in fact expresses much more than possession. For example, in the expressions "the school's headmaster", "the men's department", and "tomorrow's weather", the school does not own/possess the headmaster, men don't own/possess the department, and tomorrow does not/will not own the weather. Most disagreements about the use of possessive forms of nouns and of the apostrophe are due to the erroneous opinion that a term should not use an apostrophe if it does not express possession.[9]

In the words of Merriam-Webster's Dictionary of English Usage:[10]

The argument is a case of fooling oneself with one's own terminology. After the 18th-century grammarians began to refer to the genitive case as the possessive case, grammarians and other commentators got it into their heads that the only use of the case was to show possession.... Simply changing the name of the genitive does not change or eliminate any of its multiple functions.

This dictionary also cites a study[11] that found that only 40% of the possessive forms were used to indicate actual possession.[12]

Autoeponym[edit]

Associating an individual's name with a disease merely based on describing it confers only an eponymic; the individual must have been either affected by the disease or have died from it for the name to be termed autoeponymic. Thus, an 'autoeponym' is a medical condition named in honor of an individual who was affected by or died as a result of the disease which he had described or identified or, in the case of a non-physician patient, from which the patient suffered.[13] Autoeponyms may use either the possessive or non-possessive form, with the preference to use the non-possessive form for a disease named for a physician who first described it and the possessive form in cases of a disease named for a patient (commonly, but not always, the first patient) who had the particular disease.[14] Autoeponyms listed in this entry conform to those conventions with regard to the possessive and non-possessive forms.

Examples of autoeponyms include:

  • Rickettsiosis: in 1906, Howard Taylor Ricketts discovered that the bacteria that causes Rocky Mountain Spotted Fever is carried by a tick. He injected himself with the pathogen. Ricketts died in 1909 while investigating typhus (Rickettsia prowazakii) in Mexico City.[15]
  • Thomsen's disease: an autosomal dominant myotonia of voluntary muscles described by Julius Thomsen about himself and his family members.[16]
  • Carrion disease: Peruvian medical student Daniel Alcides Carrión inoculated himself with Bartonella bacilliformis in 1885 to prove the link to this disease, characterized by "Oroya fever." He is now regarded as a national hero.[17]
  • Lou Gehrig's disease: although Gehrig, a New York Yankees player of the early twentieth century, was not the first patient described as having amyotrophic lateral sclerosis, the association of such a prominent individual with the then little-known disease resulted in his name becoming eponymous with it.

Eponyms and trends[edit]

The current trend is away from the use of eponymous disease names and towards a medical name that describes either the cause or primary signs.[citation needed] Reasons for this include:

  • The name confers history;
  • A national or ethnic bias attaches to the eponym chosen;
  • Credit should have gone to a different person;
  • An eponym may be applied to different diseases, which creates confusion;
  • Several eponyms refer to one disease (e.g., amyloid degeneration is variously called Abercrombie disease, Abercrombie syndrome, and Virchow syndrome);
  • An eponym proves invalid (e.g., Laurence–Moon–Bardet–Biedl syndrome, in which findings in the patients of Laurence and Moon were later found to differ from those of Bardet and Biedl).
  • An eponym honors an individual who has been otherwise discredited (e.g., Wegener's Granulomatosis is named for Friedrich Wegener, a Nazi physician). It was renamed to granulomatosis with polyangiitis when Dr. Wegener's Nazi ties were discovered.
  • Its referent varies by country (e.g., sideropenic dysphagia is Plummer–Vinson syndrome in the US and Australia, Patterson–Kelly syndrome in the UK, and Waldenstrom–Kjellberg syndrome in Scandinavia).

Arguments for maintaining eponyms include:[citation needed]

  • The eponym may be shorter and more memorable than the medical name (the latter requiring abbreviation to its acronym);
  • The medical name proves to be incorrect;
  • The syndrome may have more than one cause, yet it remains useful to consider it as a whole.
  • It continues to respect a person who may otherwise be forgotten.

The usage of the genitive apostrophe in disease eponyms has followed different trends. While it remains common for some diseases, it has dwindled for others.[18]

Alphabetical list[edit]

Explanation of listing sequence[edit]

As described above, multiple eponyms can exist for the same disease. In these instances, each is listed individually (except as described below), followed by an in-line parenthetical entry beginning 'aka' ('also known as') that lists all alternative eponyms. This facilitates use of the list for a reader who knows a particular disease only by one of its eponyms, without the necessity of cross-linking entries.

It sometimes happens that an alternative eponym, if listed separately, would immediately alphabetically precede or succeed another entry for the same disease. There are three conventions that have been applied to these instances:

1. No separate entry appears for the alternative eponym. It is listed only in the parenthetical 'aka' entry (e.g., Aarskog syndrome appears only as a parenthetical entry to Aarskog–Scott syndrome).
2. If eponymous names subsequent to the first are sequenced differently or the eponym is differentiated by another term (e.g., disease versus syndrome), alphabetical sequence dictates which is the linked version versus which is listed as the alternative (e.g., Abderhalden–Kaufmann–Lignac is the linked entry and Abderhalden–Lignac–Kaufmann is the parenthetical alternative entry).
3. If the number of names included in two or more eponyms varies, the linked entry is the one which includes the most individual surnames (e.g., Alpers–Huttenlocher syndrome is the linked entry for the disease also known as Alpers disease or Alpers syndrome).

A[edit]

B[edit]

C[edit]

D[edit]

E[edit]

F[edit]

G[edit]

H[edit]

I[edit]

J[edit]

K[edit]

L[edit]

M[edit]

N[edit]

O[edit]

P[edit]

Q[edit]

R[edit]

S[edit]

T[edit]

U[edit]

V[edit]

W[edit]

X[edit]

Y[edit]

Z[edit]

See also[edit]

References[edit]

  1. ^ Merton R K, 1973
  2. ^ Gordon, BL (1971). Current medical information and terminology (4th ed.). Chicago.
  3. ^ https://ghr.nlm.nih.gov/primer/mutationsanddisorders/naming
  4. ^ WHO (May 2015). "World Health Organization Best Practices for the Naming of New Human Infectious Diseases". World Health Organization: 3. Retrieved 24 June 2020. Cite journal requires |journal= (help)
  5. ^ WHO (8 May 2015). "News News releases Statements Notes for the media Previous years Commentaries Events Fact sheets Fact files Questions & answers Features Multimedia Contacts WHO issues best practices for naming new human infectious diseases". World Health Organization. Retrieved 24 June 2020.
  6. ^ "Classification and nomenclature of morphological defects". Lancet. 1 (7905): 513. March 1975. doi:10.1016/S0140-6736(75)92847-0. PMID 46972.
  7. ^ Jana N, Barik S, Arora N (2009-03-09). "Current use of medical eponyms—a need for global uniformity in scientific publications". BMC Med Res Methodol. 9: 18. doi:10.1186/1471-2288-9-18. PMC 2667526. PMID 19272131.
  8. ^ Macaskill MR, Anderson TJ (16 April 2013). "Whose name is it anyway? Varying patterns of possessive usage in eponymous neurodegenerative diseases". PeerJ. 1: e67. doi:10.7717/peerj.67. PMC 3642700. PMID 23646286.
  9. ^ [1]
  10. ^ Merriam-Webster's Dictionary of English Usage. Merriam-Webster. 1994. p. 475. ISBN 978-0-87779-132-4.
  11. ^ Fries, Charles Carpenter (1940). American English Grammar: The Grammatical Structure of Present-day American English with Especial Reference to Social Differences Or Class Dialects. Appleton-Century. (not checked by editor)
  12. ^ Merriam-Webster's Dictionary of English Usage. Merriam-Webster. 1994. p. 475. ISBN 978-0-87779-132-4. The only statistical investigation of the genitive case that we are aware of can be found in Fries 1940. Fries found that the possessive genitive was the most common, but that it accounted for only 40 percent of all genitives.
  13. ^ Segen, J. C. (1992). The dictionary of modern medicine. Taylor & Francis. ISBN 9781850703211.
  14. ^ "For eponyms, AAMT advocates dropping the possessive form". MTStars. Retrieved 23 July 2011.
  15. ^ Weiss, Emilio, Strauss, Bernard S. (1991). "The Life and Career of Howard Taylor Ricketts". Reviews of Infectious Diseases. 13. The University of Chicago. pp. 1241–2.CS1 maint: multiple names: authors list (link)
  16. ^ Thomsen, Julius (1875). "Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter physischer Disposition (Ataxia muscularis?)". Archiv für Psychiatrie und Nervenkrankheiten. Berlin. 6: 702–718. doi:10.1007/bf02164912.
  17. ^ synd/3112 at Who Named It?
  18. ^ MacAskill, Michael R.; Anderson, Tim J. (16 April 2013). "Whose name is it anyway? Varying patterns of possessive usage in eponymous neurodegenerative diseases". PeerJ. 2013 (1): e67. doi:10.7717/peerj.67. PMC 3642700. PMID 23646286.

External links[edit]

  • Whonamedit?, a site dedicated to medical eponyms and their namesakes.
  • MedEponyms, a dictionary of pathology eponyms.