title: Investigation of a large kindred with type IIB von Willebrand's disease, dominant inheritance and age-dependent thrombocytopenia.
abstract: Twenty-six members of four generations of one family in which a man was diagnosed in 1961 as having von Willebrand's disease (vWD) have been studied. Subtype IIB vWD and autosomal dominant inheritance was identified in 19 individuals with bleeding signs varying in severity and frequency. The absence of high molecular weight multimers of plasma von Willebrand factor (vWf) and the heightened interaction of plasma vWf with platelets in the presence of low ristocetin concentrations were consistent in all affected subjects. Nevertheless the degree of these abnormalities was variable without clearcut linkage to the severity of clinical symptoms. Thrombocytopenia was present only in the adult affected family members and the platelet count appeared to be age-dependent. The investigation of this family provides further evidence of the phenotypic variability in the vWf-platelet interactions within this vWD subtype.
authors.affiliation: Laboratoire d'Hémostase, Centre Régional de Transfusion Sanguine, Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: Mazurier
authors.forename: A
authors.initials: A
authors.lastname: Parquet-Gernez
authors.forename: J
authors.initials: J
authors.lastname: Goudemand
authors.forename: M F
authors.initials: MF
authors.lastname: Taillefer
authors.forename: M
authors.initials: M
authors.lastname: Goudemand
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics*; D014842:von Willebrand Diseases / Q000097:blood / Q000150:complications / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis
chemical_list: D014841:von Willebrand Factor