Bernard-Soulier Syndrome Treatment & Management

  • Author: John D Geil, MD; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Apr 13, 2012
 

Medical Care

  • Care of Bernard-Soulier syndrome (BSS) is generally supportive.
  • Avoid antiplatelet medication, such as aspirin.
  • Specific treatment of bleeding episodes includes the following:
    • Antifibrinolytic agents, such as epsilon aminocaproic acid (Amicar) or tranexamic acid (Cyklokapron), may be useful for mucosal bleeding.
    • For surgery or life-threatening hemorrhage, platelet transfusion is the only available therapy. Platelet transfusions should be reserved for surgery or potentially life-threatening bleeding. The patient may develop antiplatelet antibodies because of glycoproteins Ib/IX/V, which are present on the transfused platelets but absent from the patient's own platelets.
    • Desmopressin acetate (DDAVP) has been shown to shorten the bleeding time in some, but not all, patients with Bernard-Soulier syndrome. DDAVP may be useful for minor bleeding episodes. The exact mechanism for this is unknown, but it may relate to increased levels of von Willebrand factor (vWF) binding to some residual glycoprotein Ib in patients without an absolute deficiency.
    • Recombinant activated factor VII has been used in patients with congenital platelet disorders, including Bernard-Soulier syndrome.[5] Once again, the exact mechanism of action is unknown, but it may work by increasing thrombin generation and the deposition of fibrin at the site of vascular injury.
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Consultations

  • Consult a pediatric hematologist.
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Activity

  • For patients with moderate-to-severe symptoms, some restriction of activity may be necessary.
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Contributor Information and Disclosures
Author

John D Geil, MD  Associate Professor of Pediatrics, Division of Hematology/Oncology, University of Kentucky College of Medicine; Consulting Staff, Department of Pediatric Hematology/Oncology, University of Kentucky Children's Hospital

John D Geil, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Society for Neuro-Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Gary R Jones, MD  Associate Medical Director, Clinical Development, Berlex Laboratories

Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD  Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville School of Medicine

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

References

  1. Young G, Luban N, White JG. Giant platelet disorders in African-American children misdiagnosed as idiopathic thrombocytopenic purpura. J Pediatr Hematol Oncol. May-Jun 1999;21(3):231-6. [Medline].

  2. Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S. Novel mutation in the glycoprotein Ibß in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. Blood Coagul Fibrinolysis. Feb 15 2012;[Medline].

  3. Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, et al. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemost. Sep 2011;106(3):475-83. [Medline].

  4. Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, et al. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. Mar 2011;96(3):417-23. [Medline]. [Full Text].

  5. Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. Dec 2007;131(12):1834-6. [Medline].

  6. Cohn RJ, Sherman GG, Glencross DK. Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of Bernard-Soulier syndrome. Pediatr Hematol Oncol. Jan-Feb 1997;14(1):43-50. [Medline].

  7. Enomoto TM, Thorborg P. Emerging off-label uses for recombinant activated factor VII: grading the evidence. Crit Care Clin. Jul 2005;21(3):611-32. [Medline].

  8. Franchini M, Zaffanello M, Veneri D. Recombinant factor VIIa. An update on its clinical use. Thromb Haemost. Jun 2005;93(6):1027-35. [Medline].

  9. Hacihanefioglu A, Tarkun P, Gonullu E. Use of recombinant factor VIIa in the management and prophylaxis of bleeding episodes in two patients with Bernard-Soulier syndrome. Thromb Res. 2007;120(3):455-7. [Medline].

  10. Jantunen E. Inherited giant platelet disorders. Eur J Haematol. Oct 1994;53(4):191-6. [Medline].

  11. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol. Nov 2002;76(4):319-27. [Medline].

  12. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. Jun 15 1998;91(12):4397-418. [Medline]. [Full Text].

  13. Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol. Feb 2000;113(2):176-90. [Medline].

  14. Nurden AT. Inherited abnormalities of platelets. Thromb Haemost. Aug 1999;82(2):468-80. [Medline].

  15. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. Aug 2005;3(8):1773-82. [Medline].

  16. Poon MC, d'Oiron R. Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. Blood Coagul Fibrinolysis. Apr 2000;11 Suppl 1:S55-68. [Medline].

  17. Tefre KL, Ingerslev J, Sorensen B. Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome. Haemophilia. Jan 2009;15(1):281-4. [Medline].

  18. Watanabe R, Ishibashi T, Saitoh Y, et al. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. Blood Coagul Fibrinolysis. Jun 2003;14(4):387-94. [Medline].

  19. Zieger B, Jenny A, Tsakiris DA, et al. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. Hamostaseologie. May 2009;29(2):161-7. [Medline].

 
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Peripheral smear of a patient with Bernard-Soulier syndrome (BSS) showing giant platelets. These platelets are not counted as platelets in most particle counters.
 
 
 
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