Pregnancy Outcome in Bernard–Soulier Syndrome

Excerpt

Inherited platelet function disorder (IPFD) or thrombocytopathies are hereditary disorders of platelet that can be classified into platelet adhesion disorders, platelet aggregation disorders, platelet activation disorders, platelet secretion disorders, and platelet procoagulant function disorders. Bernard–Soulier syndrome (BSS) is a platelet adhesion disorder caused by a deficiency of glycoprotein Ib-IX-V complex (Von Willebrand factor receptor). These defects can be quantitative or qualitative. It has a prevalence of 1 in 1 million individuals [1] affecting both males and females. The mutations are a point or a frameshift type resulting in premature stop codon leading to deficiency of the membrane glycoproteins. This defective primary haemostasis can cause bleeding from mucocutaneous sites, menorrhagia, and bleeding in the antepartum, intrapartum, and postpartum period. Pregnant women with these spectra of disorders are considered high risk and should be managed at a tertiary care centre with an availability of a multispecialty team. We report our experience in handling such a pregnant woman. …