Time for #hematology-#hematopathology-#history #tweetorial 4: the striking Pelger-Huët anomaly! These curious cells, sometimes mistaken for neutrophil bands, can be inherited; if acquired, they are often a sign of #MDS. I took this photomicrograph of a characteristic example./1 
There have been a few histories of the Pelger-Huët anomaly published over the years; a particularly nice one was done by my friend @mrinal90151372 @MayoClinic and colleagues in the American Journal of Hematology 2009). The below Tweets include original research. #PelgerHuet /2
Karel Pelger (1885-1931) – often erroneously written “Karl” in reviews - was born in the village of Nijeveen in rural Drenthe in the Netherlands. Though a country boy who disliked cities, he lived in Amsterdam because of his enthusiasm for science & better access to facilities./3
Pelger was trained as a general practitioner/family doctor but developed an interest in blood morphology. While he was largely self-taught, in the 1920s Pelger spent time with Viktor Schilling in Berlin, a pioneer of quantitative hematology. Schilling's the guy in uniform here./4
Schilling had abhorrent views on racial blood purity and thought there were too many Jews in German Universities in the 1930s (guess who he modeled that little mustache after?) - but all that would come later, long after Pelger exited the scene, and isn't part of our story./5
In 1928, in the most widely-read Dutch-language medical journal (Nederlands Tijdschrift Voor Geneeskunde), Pelger described 2 pts w/ splenomegaly who died of tuberculosis. In their blood, he noted peculiar neutrophils with bilobed nuclei connected by a fine thread of chromatin./6
Pelger thought this abnormality, which he had not noticed before, was an ominous sign since both patients died. Unfortunately, Pelger died suddenly in July 1931 in the prime of his career before he could do further studies./7
That same year, Gauthier Jean Huët (1879-1970), a Dutchman of French origin who was working at a children’s sanitarium in the town of Blaricum in North Holland, noticed similar findings in the blood of a 7 year-old girl. Given the death of Pelger's patients, this worried Huët./8
To Huët's surprise and delight, his patient recovered. Huët examined her blood again; the weird neutrophils were still there! What's more, one of Pelger's patients turned out to be the aunt of Huët's patient. The pedigree suggested autosomal dominant Mendelian inheritance./9
Some people started calling the finding Huët-Pelger anomaly, others Pelger-Huët anomaly. This often seems to happen with dual eponyms. For example, when I was in med school @UChicagoMed I often heard the term "Eaton-Lambert syndrome" (Lee Eaton was a U of C alumnus)... /10
But then I went to @MayoClinic for residency, where I was immediately corrected by Dr. Lambert himself: it is Lambert-Eaton or Lambert-Eaton-Rooke syndrome, not Eaton-Lambert. Lambert & Rooke were Mayo Clinic neurologists (as was Eaton after 1932). Here's Netter's depiction.//11
An aside: Huët and I share a heritage. After the 1572 St Bartholomew's Day Massacre, and again after the 1685 revocation of the religiously tolerant Edict of Nantes by Louis XIV, many non-Catholic Huguenots (Calvinists) fled France; the Netherlands was a popular refuge./12
One Huguenot refugee was my distant ancestor 'Michiel Gaulish' (“Michael the Frenchman”) who fled to Zeeland. Over the years "Gaulish" became Dutch-sounding "Goulooze", my Grandma's surname. Her brother John was killed late in WW2; this painting is of his #B29's final moments./13
Pelger-Huët anomaly has been found in diverse ethnic groups and also in animals. The incidence of the Pelger-Huët anomaly is said to be about 1 in 5000, though in one German town (Gelenau) it was reported to be as high as 1% in a 1967 report./14
In 1975, a team at @WitsUniversity in #SouthAfrica described Pelger-Huët anomaly in 3 patients with Marburg virus (2 visiting Australian tourists and a nurse in Johannesburg). It is unclear if this is specific to Marburg or can be seen with other filoviruses like Ebola./15
The nucleus in Pelger-Huët cells is often compared to pince-nez "pinch-nose" spectacles. Famous pince-nez wearers have included Russian doctor-writer Anton Chekhov, depicted here in a 1903 photo- also Teddy Roosevelt, Mahatma Gandhi, and “Freud Himself” (as psychologists say.)/16
~5 yrs ago I heard a fascinating talk at @WellesleyLib about the history of eyeglasses by David Fleishman, a retired ophthalmologist from the Boston area (Brockton). His website is antiquespectacles.com There have been a lot of peculiar eyeglass ideas over the centuries!/17
In 2002, inherited Pelger-Huët anomaly was linked to mutations in the gene (LBR) encoding Lamin B receptor, a strutural protein. #Laminopathies also include conditions like Hutchinson Guilford progeria./18
A rare disorder called HEM/Greenberg skeletal dysplasia (HEM= hydrops, ectopic calcifications, and moth-eaten) also results from mutations in the lamin B receptor (LBR) gene. This image is from Offiah AC J Med Genetic 2013 In contrast to benign PH, this condition is lethal./20
Several series have found that pseudo-Pelger-Huët cells ("pseudo" denotes that they are not the originally described inherited kind) are among the more specific findings for MDS. Hopefully one of the readers of this tweetorial will figure out the pathophysiology./ 21End
