2B or not to be--the 45-year saga of the Montreal Platelet Syndrome.
Over 45 years ago, Montreal Platelet Syndrome was first described as a rare inherited platelet disorder characterised by macrothrombocytopenia with spontaneous platelet clumping, abnormal platelet shape change upon stimulation and a defect in platelet calpain. This syndrome has now been reclassified as type 2B von Willebrand disease with the V1316M VWF mutation in the only kindred ever reported. We herein revisit the historical platelet characteristics originally described in Montreal Platelet Syndrome in light of the new diagnosis. This paper will review the 45-year saga of Montreal Platelet Syndrome, a story that highlights the value of revisiting a rare diagnosis to look for a more common explanation.
Poon
Man-Chiu
MC
Division of Hematology and Hematologic Malignancies, Department of Medicine, University of Calgary, Calgary, Alberta, Canada. mcpoon@ucalgary.ca
Rand
Margaret L
ML
Jackson
Shannon C
SC
D001777:Blood Coagulation / Q000235:genetics; D001780:Blood Coagulation Tests / Q000266:history; D001791:Blood Platelet Disorders / Q000097:blood / Q000235:genetics / Q000266:history*; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D002170:Canada; D020022:Genetic Predisposition to Disease; D049673:History, 20th Century; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010979:Platelet Function Tests / Q000266:history; D013577:Syndrome; D056728:von Willebrand Disease, Type 2 / Q000097:blood / Q000235:genetics / Q000266:history*; D014841:von Willebrand Factor / Q000235:genetics / Q000266:history*
D014841:von Willebrand Factor