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Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a rare congenital bleeding disorder characterized by thrombocytopenia and large platelets and was first described in 1948. It is one of a group of hereditary platelet disorders characterized also by a tendency toward bleeding. The disorder was recognized to be familial and inherited in an autosomal recessive manner so males and females are affected with equal frequency. In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein.
Pathophysiology
The underlying biochemical defect is the absent or decreased expression of the glycoprotein Ib/IX/V complex on the surface of the platelets. This complex is the receptor for von Willebrand factor (vWF), and the result of decreased expression is deficient binding of vWF to the platelet membrane at sites of vascular injury, resulting in defective platelet adhesion. This is demonstrated by the lack of aggregation of platelets in response to ristocetin, an antibiotic that normally causes platelets to aggregate. The end result is the lack of formation of the primary platelet plug and increased bleeding tendency. The cause of the thrombocytopenia is not definitely known, but it is probably related to a decreased platelet life span.
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See also
"Bernard-Soulier syndrome"