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Abstract

Abstract


Five cases of Bernard Soulier Syndrome (BSS) and 5 cases of thrombasthenia were diagnosed at the Armed Forces Institute of Pathology, Rawalpindi during the year 1986. All cases presented with life-long bleeding diathesis. Investigations in all the 10 cases revealed prolonged bleeding time and normal or below normal platelet counts with a normal coagulation profile. Normal clot retraction (CR) with defective prothrombin consumption index (PCI) was seen in 5 cases of Bernard Soulier syndrome whereas the former was below normal/lowest limit of normal with normal PCI in thrombasthenia cases. The diagnosis was finally confirmed by platelet aggregation studies using ADP, adrenaline, collagen and ristocetin in varying dilutions. In thrombasthenia, platelet count and morphology was normal and there was no aggregation in response to any concentration of ADP, Collagen or adrenaline whereas aggregation was normal in response to ristocetin. In BSS, platelet count was below normal with giant platelets in peripheral blood film. There was no aggregation with any concentration of ristocetin with mild response to other reagents like ADP, adrenaline and collagen in these cases. The bleeding episodes in some of these patients were successfully managed by transfusion of platelet concentrates obtained from normal donors(JPMA 37: 223, 1987).