Spectrum of Von Willebrand disease and inherited platelet function disorders amongst Indian bleeders

Abstract

Platelet function disorders (PFD) and Von Willebrand disease (VWD) are among the uncommon causes of bleeding in haematological practice. The inherited variety of PFD includes defects in platelet adhesion, aggregation, secretion and platelet procoagulant activities. VWD is classified into three major categories-type 1 and 3 (quantitative deficiency) and type 2 VWD (qualitative defect). In the present study, the profile and prevalence of inherited PFD and VWD in Indians are described. Two thousand eight hundred patients with history of muco-cutaneous bleeding and other bleeding disorders were investigated. The tests performed included platelet count, bleeding time, PT, APTT, F VIII assay, platelet factor 3 (PF3) availability, platelet aggregation studies, VWF:Ag, VWF:RCo and multimeric analysis. Out of 2,800 patients investigated, a total of 872 (31.1%) were characterized to have either inherited coagulation defects (64.2%) or inherited platelet function disorders (35.8%). Of these 872 patients, 312 (35.8%) cases were characterized to have inherited PFD and 94 (16.8%) patients as VWD. Among 312 inherited PFD patients, isolated PF3 availability defect (48.1%) was most common, followed by unclassified PFD (37.2%). Among 94 VWD patients, type 2 VWD was most common (44.7%), followed by type 3 VWD (34.5%) and type 1 VWD (21.3%), respectively. Bleeding manifestations included easy bruising (46%), undue prolonged bleeding from trivial injuries (50% in PFD and type 1 and type 2 VWD and 100% in type 3 VWD), menorrhagia (31%), gum bleeds (22%), epistaxis (55%), haematuria (6%), GI bleeds (11%) and rarely, haematomas and haemarthoses (4%). In conclusion, VWD and inherited platelet function disorders are not uncommon among Indian population presenting with bleeding disorders.