Advertisement

Bernard–Soulier Syndrome

  • Sharon Orbach-Zinger
  • Atara Davis
  • Alexander Ioscovich
Chapter

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.

Keywords

Bernard–Soulier syndrome Pregnancy Thrombocytopenia Giant platelets 

References

  1. 1.
    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.CrossRefGoogle Scholar
  2. 2.
    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.CrossRefGoogle Scholar
  3. 3.
    Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007;131(12):1834–6.PubMedGoogle Scholar
  4. 4.
    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.PubMedGoogle Scholar
  5. 5.
    Lanza F. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006;1:46.CrossRefGoogle Scholar
  6. 6.
    Alamelu J, Liesner R. Modern management of severe platelet function disorders. Br J Haematol. 2010;149(6):813–23.CrossRefGoogle Scholar
  7. 7.
    Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998;91(12):4397–418.PubMedGoogle Scholar
  8. 8.
    Prabu P, Parapia LA. Bernard-Soulier syndrome in pregnancy. Clin Lab Haematol. 2006;28(3):198–201.CrossRefGoogle Scholar
  9. 9.
    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.CrossRefGoogle Scholar
  10. 10.
    Kriplani A, Singh BM, Sowbernika R, Choudhry VP. Successful pregnancy outcome in Bernard-Soulier syndrome. J Obstet Gynaecol Res. 2005;31(1):52–6.CrossRefGoogle Scholar
  11. 11.
    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.CrossRefGoogle Scholar
  12. 12.
    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.CrossRefGoogle Scholar
  13. 13.
    Huq FY, Kadir RA. Management of pregnancy, labour and delivery in women with inherited bleeding disorders. Haemophilia. 2011;17(Suppl 1):20–30.CrossRefGoogle Scholar
  14. 14.
    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.CrossRefGoogle Scholar
  15. 15.
    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.CrossRefGoogle Scholar
  16. 16.
    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.CrossRefGoogle Scholar
  17. 17.
    Cattaneo M. Desmopressin in the treatment of patients with defects of platelet function. Haematologica. 2002;87(11):1122–4.PubMedGoogle Scholar
  18. 18.
    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.CrossRefGoogle Scholar
  19. 19.
    Hayward CP, Rao AK, Cattaneo M. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia. 2006;12(Suppl 3):128–36.CrossRefGoogle Scholar
  20. 20.
    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.PubMedGoogle Scholar
  21. 21.
    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.CrossRefGoogle Scholar
  22. 22.
    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.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Sharon Orbach-Zinger
    • 1
  • Atara Davis
    • 1
  • Alexander Ioscovich
    • 2
  1. 1.Department of AnesthesiaRabin Medical Center, Beilinson HospitalPetach TikvahIsrael
  2. 2.Department of AnesthesiaShaare Zedek Medical Center, Hebrew UniversityJerusalemIsrael

Personalised recommendations