Primigravida with Bernard-Soulier Syndrome: a case report

Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is characterized by a genetic defect on one of the four genes encoding the subunits of the transmembrane protein complex GPIb-V-IX, physiologically expressed only in platelets. The exact phenotype varies widely from individual to individual depending on the particular mutation presented. Currently, there is no consensus about ideal management of affected pregnant women, in face of the scarcity of cases.

We report on a 28-year-old Black Brazilian primigravida who was referred to our maternity hospital, a tertiary care center, for decision about the most adequate mode of delivery. She was admitted with a platelet count of 43.000 plt/μL, and hemoglobin of 13.6 g/dL. Platelet transfusion was regarded as a necessary prophylactic measure prior to delivery. Ten units of random donor platelets were administered on the course of three days, after which the patient was submitted to an elective cesarean section delivery under general anesthesia at 40 weeks of gestational age. A healthy male baby with a normal birthweight of 3.615 kg was delivered. After the delivery, the mother's state continued being assessed daily, with special attention taken to lochia and surgical wound healing. At one week postpartum, a complete blood count revealed a platelet count of 41.000 plt/μL, and hemoglobin of 13.3 g/dL. As there were no signs of neither evident nor occult hemorrhage, and surgical wound was healing accordingly, the patient was discharged, after being oriented about bleeding preventive measures.

The peripartum period is regarded as the most crucial moment of pregnancy in women with Bernard-Soulier Syndrome, hence the importance of a judiciously planned mode of delivery, and of careful prophylaxis against bleeding beforehand. Furthermore, absence of complications during the peripartum period does not predict how the woman will do subsequently. Strict vigilance is warranted at least until six weeks postpartum, due to the virtual risk of secondary postpartum hemorrhage.