Thread by @DavidSteensma

#HematologyTweetstory 19 is a "double feature". The A-reel: Louis Klein Diamond, one of the founders of #pediatrichematology, who has 3 conditions named after him; 2 are often confused by students. The B-movie: medical #eponyms. Feel free to take a popcorn break in between.😉/1

Louis Diamond was born in in 1902 in Chișinău, which at the time was part of the Russian Imperial “Governate of Bessarabia”. Now it is the capital of the independent Republic of #Moldova. Here is Chișinău in 1902, the year Diamond was born./2

After the terrible Kishinev pogrom in April 1903 - a forerunner of the violent persecution that was to come for European Jews - Diamond’s Jewish parents decided it was time to leave the Pale of Settlement, and moved to New York City./3

timesofisrael.com/how-a-small-po…

Diamond spent most of his career in Boston. He graduated from Harvard College in 1923 & @harvardmed 1927, then briefly worked with the remarkable Florence Sabin (1871-1953) @RockefellerInst in NYC (for 20 years she was only female NAS member) before coming to @BostonChildrens./4

Diamond's mentor @BostonChildrens was Kenneth Blackfan (1883-1941), a pediatrician interested in hematology and nutrition. Blackfan also mentored Sidney Farber of @DanaFarber fame. Blackfan has a street named after him, in Boston's Longwood Medical Area./5

Diamond focused on anemia. Shortly after Thomas Cooley & Pearl Lee identified thalassemia in Detroit in 1925 - separating it from the morass of “von Jaksch's anemia pseudo-leukemica infantum" - Diamond identified "Cooley anemia" cases among Greek & Italian immigrants in Boston./6

In 1932, Diamond, Blackfan & colleague James Baty identified that neonatal jaundice, kernicterus and hydrops fetalis - major causes of mortality at the time - were linked: hemolytic disease of the newborn. They published this work in volume 1 of @JPediatr./7

After Philip Levine et al discovered Rhesus factor in 1941, a major hemolysis cause (discussed in a previous #HematologyTweetstory on blood grouping), Diamond developed a life-long interest in transfusion medicine and formed the "Blood Grouping Laboratory" in Boston./8

Hemolytic disease of the newborn is not named after Diamond, but he does have 3 eponymous conditions named after him. Diamond-Blackfan anemia and Schwachman-Bodian-Diamond syndrome are well known to hematologists. Gardner-Diamond purpura is a bit more obscure./9

In 1938, Diamond & Blackfan described 4 cases of inherited “infant erythroid hypoplastic anemia”, a disorder that was to become known as Diamond-Blackfan anemia or DBA. The genetics are now known to involve ribosome biosynthesis. The @DBAFoundation supports many families./10

In 1955, Frank Gardner (1919-2013) & Diamond described 4 women with what became known as Gardner–Diamond syndrome. This is an odd disorder manifest by painful bruises, not always post-traumatic. The cause is unclear. Oscar Ratnoff in the 1980s called it “psychogeneic purpura.”/11

In 1964, Diamond collaborated with Harry Shwachman (whose name is often misspelled Schwachman or Schwachmann), chief of the Division of Clinical Nutrition at Children's Hospital from 1946-1971 and an expert in cystic fibrosis (sweat test pioneer)./12

They noted a multi-system disease with pancreatic insufficiency and marrow failure – a condition sometimes called Shwachman-Bodian-Diamond (SBDS) because it was independently described by British ophthalmogist Martin Bodian (1910-1963) & his colleagues @GreatOrmondSt in 1964./13

In each of these instances, it was *others* who applied the Diamond eponym, not Diamond himself. Certain people have named diseases after themselves, but that is usually considered crass and bad form - even if avoiding that is, to quote POTUS, “a lost marketing opportunity.”/14

Louis Diamond’s son Jared Mason Diamond (born 1937) is a terrific science writer; he wrote "Guns, Germs and Steel" and "The Third Chimpanzee". His book “Collapse”, about how civilizations fall (often by exceeding environmental carrying capacity), seems increasingly relevant./15

Diamond and his wife Flora's daughter Susan Diamond was the long-time Los Angeles Times “For What Its Worth” consumer reporter, writing as "S.J. Diamond" She wrote a novel, “What Goes Around.” Quite an accomplished family. Image: SusanJDiamond.com /16

Back in the 1960s, Harvard had a mandatory retirement age (65), so Diamond left for @UCSF in 1968 and worked there for 17 more years. He died at age 97 in 1999. He had trained >75 hematologists, including many future leaders. I took this picture of a wall that depicts a few./17

Reel B: Eponyms are often memorable & commemorate history, which we forget at our peril. They can also be useful: “Down syndrome” (John Langdon Down 1828-1896) describes an instantly recognizable complex clinical pattern; “trisomy 21” describes only a chromosome abnormality. /18

But they can also be confusing, especially if one physician or scientist described multiple things. There are too many: >6000 in Marcucci's catalogue! And The “Whiggish” approach to medical history, which documented “great men and their great deeds”, is now frowned upon./19

@MayoClinic's Henry Plummer (1874-1936), who invented the medical record system that the Clinic still uses 120 years later, described Plummer-Vinson syndrome (esophageal web due to iron deficiency) & Plummer’s nail of thyrotoxicosis, often mistakenly believed due to low iron. /20

Swiss pediatrician Guido Fanconi (1892 – 1979) described Fanconi anemia as well as Fanconi syndrome of the renal tubule (can be caused by AMML), which has caused student confusion over the years. He also co-discovered Prader-Willi syndrome, which he didn’t give his name to./21

"Wermer" syndrome (MEN1; named after Paul Wermer 1898-1975 @CUMClibrary @marklewismd) and
"Werner" syndrome (progeria; Otto Werner, 1879-1936) have also caused confusion, even though they are not the same person… they just sound similar/22

James Paget (1814-1899) has at least 4 conditions named after him – Paget disease of bone, Paget disease of breast, extra-mammary Paget disease (aka Paget disease of penis/vulva), Paget-Schroetter disease. /23

French-Polish Joseph/Jozef Babinski (1857-1929) got 3 diseases plus a physical exam sign named after him. PS: "Babinski" is never downgoing, that would be "plantar response is downgoing." "Babinski sign" is an abnorrmal plantar reflex./24

And spare a thought for students of Frederick Parkes Weber (1863 – 1962), son of Queen Victoria's personal physician:

Klippel–Trénaunay–Weber syndrome
Osler–Weber–Rendu disease
Weber–Christian disease
Parkes-Weber syndrome
Weber–Cockayne syndrome
Sturge–Weber syndrome
etc

/25

Yet despite all those Weber-isms, the Weber test to help distinguish conductive vs sensineural hearing loss was... a different Weber: Ernst Heinrich Weber (1795 – 1878). /26

The winner of eponyms must be legendary Jean-Marie Charcot (1825-1893) of Paris. Not only did he give his name to several diseases (eg Charcot-Marie-Tooth), he has a joint (diabetic arthropathy), 2 triads (cholangitis and MS), a crystal (Charot-Leyden), an aneurysm and more./27

Another problem is if everyone gets used to using an eponym then the person turns out to be evil. Hans Reiter (Reiter syndrome, now “reactive arthritis”) and Friedrich Wegener (Wegener syndrome, now “granulomatosis with polyangiitis”) were both Nazis and lost their eponyms./28

Since the 1970s there has been a trend to get away from apostrophes in eponyms. Alois Alzheimer neither suffered from nor owned the brain disease he described; thus “Alzheimer dementia” seems better than “Alzheimer’s dementia”, Hodgkin not Hodgkin's, etc. Punctuation matters!/29

Some diseases are named after patients, which seems more appropriate when patients consent to that. 1920s baseball star Lou Gehrig of ALS fame is the classic example, though it is hard to imagine Gehrig (or baseball) is well known in Kyrgyzstan or the rural Congo. ./30

We discussed a number of patient-named factors and diseases in the coagulation #Tweetstory.

There are of course eponyms in many other areas of life - geography (eponymous toponyms), non-biological sciences, sociology, economics, etc./31

There is a wonderful tool for those interested in medical eponyms: WhoNamedIt? (Whonamedit.com)
Founded more than 20 years ago by Ole Daniel Enersen in Norway, it includes short biographies and key references. That's all for now!/32End