Bernard Soulier Syndrome is a rare disorder of platelets, inherited predominantly as an autosomal recessive trait presenting with severe thrombocytopaenia and prolonged bleeding time, with the presence of extremely large platelets; it is associated with a high risk of serious bleeding for the mother and the neonate. Its prevalence is estimated at 1:1000000 from cases reported in the international literature.1 Due to the rarity of this disease, there is no clear guideline for the management of these women in pregnancy.
We present a case of pregnancy in a primigravid woman with diagnosed Bernard Soulier syndrome. A multidisciplinary team approach was taken to plan antenatal, intrapartum and postpartum care. Anti-platelet antigens and HLA antibodies were monitored monthly throughout the pregnancy to assess the risk of neonatal alloimmune thrombocytopenia. Clear plans were made in conjunction with haematology to manage antenatal admissions. Prophylactic cover with recombinant Factor VIIa and tranexamic acid was used during labour and delivery; these were continued for 48 h post partum. Regional anaesthetic was avoided. HLA matched platelets were available for the date of induction which was planned for 39 weeks. The patient was delivered by Neville Barnes forceps following a spontaneous labour with an estimated blood loss of 200 mls. She had an uneventful postpartum recovery except for bilateral subjconjunctival haemorrhages which resolved following platelet transfusion.
This case highlights the importance of a robust multidisciplinary team approach to ensure the best outcome in pregnant women with rare bleeding disorders.
Peitsidis P, Datta T, et al. Bernard Soulier syndrome in pregnancy: a systematic review. Haemophilia 2010;16:584–591
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