VWD2B phenotype: its prevalence within families and bleeding tendency in affected members.

WOODS AI; KEMPFER AC, ; PAIVA J, ; BERMEJO E, ; BLANCO A,; CHUIT R,; SANCHEZ-LUCEROS A,; LAZZARI MA

Toronto (Ontario)

Congreso; XXV ISTH Congress; 2015

International Society on Thrombosis and Haemostasis

Type 2B vonWillebrand disease (2B-VWD) is characterized by gain-of-function mutations inthe A1 domain of von Willebrand factor (VWF) inducing a greater affinity forplatelet GPIb, with the disappearance of large forms of multimers (HMWM),thrombocytopenia, positive ristocetin induced platelet aggregation (RIPA) atlow concentrations, and VWF:RCo/VWF:Ag<0.6. It is important to determine thedegree of severity of the disease in a family context, correlating in eachpatient the phenotype with genotype and its prevalence within the family.