A case of Bernard-Soulier syndrome (BSS) was presented and investigated with particular reference to the platelet-membrane glycoprotein abnormalities and the pathogenetic mechanism of thrombocytopenia.
The patient was a 34-yr-old woman with a life-long history of bleeding such as easy bruising, epistaxis, gingival bleeding and menorrhagia. She had a moderately decreased platelet count with giant plateletes on the peripheral blood smear and a markedly prolonged bleeding time. Aggregations of platelets to ADP, epinephrine and collagen were normal or near normal. Thrombin-induced aggregation was delayed and markedly diminished. No appreciable platelet aggregation was observed in response to ristocetin and bovine factor VIII. Tests of coagulation/fibrinolysis were all normal. From these results she was diagnosed as BSS.
Analysis of platelet-membrane glycoproteins by one- or two-dimensional SDS-polyacrylamide gel electrophoresis revealed the absence of GPIb and GPV.
Increased platelet aggregates, possibly formed in vitro during blood collection by hyperreactive platelets lacking GPIb- the major sialic acid source of platelet, was demonstrated by Wu and Hoak technique, suggesting a cause of thrombocytopenia in BSS.
