Abstract
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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Okoli S, Madan B, Mwirigi A, Moore G, Drew A, Mitchell MJ, et al. A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis. Haemophilia. 2015;21(6):e510–3.
Clemetson KJ, McGregor JL, James E, Dechavanne M, Luscher EF. Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis. J Clin Invest. 1982;70(2):304–11.
Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007;131(12):1834–6.
Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA. Bernard Soulier syndrome in pregnancy: a systematic review. Haemophilia. 2010;16(4):584–91.
Lanza F. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006;1:46.
Alamelu J, Liesner R. Modern management of severe platelet function disorders. Br J Haematol. 2010;149(6):813–23.
Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998;91(12):4397–418.
Prabu P, Parapia LA. Bernard-Soulier syndrome in pregnancy. Clin Lab Haematol. 2006;28(3):198–201.
Khalil A, Seoud M, Tannous R, Usta I, Shamseddine A. Bernard-Soulier syndrome in pregnancy: case report and review of the literature. Clin Lab Haematol. 1998;20(2):125–8.
Kriplani A, Singh BM, Sowbernika R, Choudhry VP. Successful pregnancy outcome in Bernard-Soulier syndrome. J Obstet Gynaecol Res. 2005;31(1):52–6.
Kostopanagiotou G, Siafaka I, Sikiotis C, Smyrniotis V. Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome. J Clin Anesth. 2004;16(6):458–60.
Palsson R, Vidarsson B, Gudmundsdottir BR, Larsen OH, Ingerslev J, Sorensen B, et al. Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. Platelets. 2014;25(5):357–62.
Huq FY, Kadir RA. Management of pregnancy, labour and delivery in women with inherited bleeding disorders. Haemophilia. 2011;17(Suppl 1):20–30.
Bolton-Maggs PH, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006;135(5):603–33.
Lethagen S, Nilsson IM. DDAVP-induced enhancement of platelet retention: its dependence on platelet-von Willebrand factor and the platelet receptor GP IIb/IIIa. Eur J Haematol. 1992;49(1):7–13.
Lozano M, Escolar G, Bellucci S, Monteagudo J, Pico M, Ordinas A, et al. 1-Deamino (8-D-arginine) vasopressin infusion partially corrects platelet deposition on subendothelium in Bernard-Soulier syndrome: the role of factor VIII. Platelets. 1999;10(2–3):141–5.
Cattaneo M. Desmopressin in the treatment of patients with defects of platelet function. Haematologica. 2002;87(11):1122–4.
Nolan B, White B, Smith J, O’Reily C, Fitzpatrick B, Smith OP. Desmopressin: therapeutic limitations in children and adults with inherited coagulation disorders. Br J Haematol. 2000;109(4):865–9.
Hayward CP, Rao AK, Cattaneo M. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia. 2006;12(Suppl 3):128–36.
Kopec I, Maslanko K, Litmanowicz M, Stefanska E, Mikos A, Warzocha K. Bernard-Soulier syndrome during pregnancy: a case report. Ginekol Pol. 2005;76(10):824–7.
Nozuchi S, Mizobe T, Aoki H, Hiramatsu N, Kageyama K, Amaya F, et al. Sevoflurane does not inhibit human platelet aggregation induced by thrombin. Anesthesiology. 2000;92(1):164–70.
Ul Haq MI, Sohaib M, Khan S, Nazir M. Bernard-Soulier syndrome: a challenge for anesthetist in an emergency surgery. J Anaesthesiol Clin Pharmacol. 2015;31(3):416–7.
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Orbach-Zinger, S., Davis, A., Ioscovich, A. (2018). Bernard–Soulier Syndrome. In: Mankowitz, S. (eds) Consults in Obstetric Anesthesiology. Springer, Cham. https://doi.org/10.1007/978-3-319-59680-8_23
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DOI: https://doi.org/10.1007/978-3-319-59680-8_23
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