Bernard–Soulier Syndrome (BSS) is a rare autosomal recessive platelet disorder, characterized by thrombocytopenia, giant platelets, and platelet dysfunction. The estimated incidence of BSS worldwide is less than one in a million. Pregnant women with BSS are at increased risk for early or delayed postpartum hemorrhage, which in severe cases necessitates an emergency hysterectomy.
BSS is predominately diagnosed prior to pregnancy. BSS should be suspected in cases of parturients with elevated mean platelet volume (MPV) in routine blood count assessment and large presenting platelets on peripheral blood smear evaluation.
Previous reports have suggested tranexamic acid, desmopressin, and recombinant FVIIa (rFVIIa) as appropriate hemostatic treatment. In cases of severe bleeding, when other hemostatic agents are ineffective, HLA-matched platelet transfusion may be considered.
To date, though, research remains insufficient to guide treatment. Therefore, proper case management requires a multidisciplinary approach of obstetrician, hematologist, and anesthesiologist with individual case assessment and management.
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