GLANZMANN THROMBASTHENIA WITH MILD VON-WILLEBRAND DISEASE

A Saudi Arabian family is reported in which Glanzmann's thrombasthenia and von Willebrand's disease occurred simultaneously. The daughter pr esented with menorrhagia and gave a history of gastrointestinal bleedi ng and a strong family history of bleeding disorder. Full haematologic al investigations were performed on the propositus, parents, and sibli ngs, including complete blood count, bleeding time, prothrombin time, partial thromboplastin time, factor VIII:C, von Willebrand factor, ris tocetin cofactor, platelet aggregometry, platelet glycoprotein Ib and IIb/IIIa and platelet antigen PLT-1 (Coulter Clone). The propositus ha d Glanzmann's thrombasthenia, both parents had mild von Willebrand's d isease and were carriers of Glanzmann's thrombasthenia. Three symptoma tic brothers had both Glanzmann's thrombasthenia and von Willebrand's disease; two asymptomatic brothers had von Willebrand's disease only a nd one had completely normal results. Those family members with both d iseases were more severely affected than those with just one disease. In areas where consanguineous marriage is common, such as Saudi Arabia , multiple haemostatic abnormalities may occur, and investigation shou ld not stop with the discovery of a single abnormality. The increased clinical severity of bleeding, including haemarthroses, in those patie nts having both congenital defects emphasises the importance of von Wi llebrand factor in glycoprotein Ib-mediated platelet adhesion.