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Bernard-Soulier Syndrome Treatment & Management

  • Author: John D Geil, MD; Chief Editor: Hassan M Yaish, MD  more...
 
Updated: May 03, 2016
 

Approach Considerations

Care of Bernard-Soulier syndrome (BSS) is generally supportive. In most cases, no medications are needed. In all cases, antiplatelet medications (eg, aspirin) should be avoided. Bleeding episodes may require specific treatment, as follows.

Antifibrinolytic agents, such as ε-aminocaproic acid or tranexamic acid, may be useful for mucosal bleeding.

For surgery or potentially life-threatening hemorrhage, platelet transfusion is the only available therapy; it should be reserved for these settings. 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. Pregnant women with BSS are at risk for postpartum hemorrhage. The neonate born of a mother with BSS has a risk of significant bleeding due to neonatal alloimmune thrombocytopenia.[8]

Desmopressin acetate (DDAVP) has been shown to shorten the bleeding time in some, but not all, patients with BSS. DDAVP may be useful for minor bleeding episodes. The exact mechanism by which it acts is unknown but may be related 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 to treat patients with congenital platelet disorders, including BSS.[9] Once again, the exact mechanism of action is unknown, but this agent may work by increasing the generation of thrombin and the deposition of fibrin at the site of vascular injury.

For patients with moderate-to-severe symptoms, some restriction of activity may be necessary.

Consultation with a pediatric hematologist is appropriate.

 
 
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, Society for Neuro-Oncology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Acknowledgements

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.

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.

References
  1. Diz-Kucukkaya R. Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. Hematology Am Soc Hematol Educ Program. 2013. 2013:268-75. [Medline]. [Full Text].

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

  3. 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. 2012 Feb 15. [Medline].

  4. 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. 2011 Sep. 106(3):475-83. [Medline].

  5. 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. 2011 Mar. 96(3):417-23. [Medline]. [Full Text].

  6. Feng S, Christodoulides N, Kroll MH. The glycoprotein Ib/IX complex regulates cell proliferation. Blood. 1999 Jun 15. 93 (12):4256-63. [Medline].

  7. Bragadottir G, Birgisdottir ER, Gudmundsdottir BR, et al. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. Am J Hematol. 2015 Feb. 90 (2):149-55. [Medline].

  8. Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA. Bernard Soulier syndrome in pregnancy: a systematic review. Haemophilia. 2010 Jul 1. 16(4):584-91. [Medline].

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

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