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 872patients, 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.
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References
Ramasamy L (2004) Inherited bleeding disorders: disorders of platelet adhesion and aggregation. Crit Rev Oncol Hematol 49(1):1–35
Dean JA, Blanchette VS, Carcao MD, Stain AM, Sparling CR et al (2000) von Willebrand disease in a pediatric based population—comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-binding asay. Thromb Haemost 84:401–409
Nichols WC, Ginsberg D (1997) Von Willebrand disease. Medicine 76:1–20
Coller BS, Seligsohn U, Peretz H, Newman PJ (1994) Glanzmann thrombasthenia: new insights from an historical perspective. Semin Hematol 31:301–311
Rao AK, Gabbeta J (2002) Congenital disorders of platelet signal transduction. Arterioscler Thromb Vasc Biol 20:285–289
Sadler JE (1994) A revised classification of von Willebrand disease. Thromb Haemost 71:520–525
Saraya AK, Pati HD (1994) Platelet factor 3 deficiency: an associated defect in functional platelet disorders of acquired and congenital origin. Hematol Rev 9:21–26
Lewis SM, Barn BJ, Bater I (2001) Dacie and Lewis practical haematology, 9th edn. Churchill Livingstone, London, UK
Hardisty RM, Hutton RA (1966) Platelet aggregation and the availability of platelet factor 3. Br J Haematol 12:764–766
Weiss HJ, Hoyer LW, Rickles FR, Varma A, Rogers J (1973) Quantitative assay of a plasma factor deficient in von Willebrand’s disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J Clin Invest 52:2798–2816
Ruggeri ZM, Zimmermann TS (1981) The complex multimeric composition of factor VIII/von Willebrand factor. Blood 57:1140–1143
Enayat MS, Hill FGH (1983) Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique. J Clin Pathol 36:915–919
Gupta PK, Ahmed R, Kannan M, Chatterjee T, Choudhry VP, Saxena R (2004) Platelet factor 3 availability test: an effective screening test for types 1 and 2 von Willebrand disease. Ann Hematol 83:489–490
Nurden AT, Nurden P (2001) Inherited defects of platelet function. Rev Clin Exp Hematol 9:314–344
Lusher JM (1999) Systemic causes of excessive uterine bleeding. Semin Hematol 36(Suppl 4):10–20
Tuddenham EGD (1989) Von Willebrand factor and its disorders: an overview of recent molecular studies. Blood Rev 3:251–262
Lenk H, Nilsson IM, Holmberg L, Weissbach G (1988) Frequency of different types of von Willebrand’s disease in the GDR. Acta Med Scand 224:275–280
Kasper Carol K (2003) The Haemophilia Bulletin August 4th issue. Orthopaedic Hospital 24003 Flower St., Los Angles, CA-90007
Nitu-Whalley IC, Riddell A, Lee CA, Pasi KJ, Owens D, Enayat MS, Perkins SJ, Jenkins PV (2000) Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modeling. Thromb Haemost 84:998–1004
Gupta PK, Ahmed RPH, Sazawal S et al (2005) Relatively high frequency of VWD types 3 and 2 in a Cohort of Indian patients: the role of multimeric analysis. J Thromb Haemost 3(6):1321–1323
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Gupta, P.K., Charan, V.D. & Saxena, R. Spectrum of Von Willebrand disease and inherited platelet function disorders amongst Indian bleeders. Ann Hematol 86, 403–407 (2007). https://doi.org/10.1007/s00277-006-0244-8
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DOI: https://doi.org/10.1007/s00277-006-0244-8