Bernard-Soulier Syndrome Medication

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

Medication Summary

In general, no medications are needed in Bernard-Soulier syndrome (BSS). Antifibrinolytic agents (eg, aminocaproic acid, tranexamic acid) may be useful for mucosal bleeding. For surgery or life-threatening hemorrhage, platelet transfusion is the only available therapy.

Desmopressin acetate (DDAVP) has been shown to shorten the bleeding time in some, but not all, patients with Bernard-Soulier syndrome. Recently, recombinant activated factor VII has been used to treat congenital platelet disorders.

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Antifibrinolytics

Class Summary

These agents are used to enhance hemostasis when fibrinolysis contributes to bleeding.

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Aminocaproic acid (Amicar)

 

Inhibits fibrinolysis via inhibition of plasminogen activator substances and, to a lesser degree, through antiplasmin activity. The main problems are that the thrombi that form during treatment are not lysed and effectiveness is uncertain.

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Tranexamic acid (Cyklokapron)

 

Alternative to aminocaproic acid. Inhibits fibrinolysis by inhibiting plasminogen activators.

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Vasopressin analogs

Class Summary

Desmopressin stimulates factor VIII, prostaglandins, and plasminogen release, but the mechanism of action is not clear and may not be common to all 3 substances. These agents possess effect on vessel walls that produces an increase in platelet adhesion. This local hemostatic action may account for its hemostatic properties.

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Desmopressin acetate (DDAVP, Stimate)

 

Used to decrease bleeding time in some, but not all, patients with BSS. It may be useful for minor bleeding episodes. The exact mechanism for this is unknown, but it may relate to increased levels of vWF binding to some residual glycoprotein Ib in patients without an absolute deficiency.

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Clotting factors

Class Summary

Hemostasis is the physiological response to bleeding. Injury and factors released by platelets initiates the coagulation cascade, which is mediated by blood clotting factors. This results in formation of an insoluble fibrin clot, thus reinforcing the initial platelet plug. Clotting factors (ie, antihemophilic factor [factor VIII], factor VII, or IX) function as cofactors in the blood coagulation cascade.

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Factor VIIa, Recombinant (NovoSeven)

 

Vitamin K-dependent glycoprotein indicated for the treatment of bleeding episodes in patients with hemophilia A or B and inhibitors. Promotes hemostasis by activating the extrinsic pathway of the coagulation cascade, forming complexes with tissue factor, and promoting activation of factor X to factor Xa, FIX to factor IXa, and factor II to factor IIa.

Experience with the use of recombinant activated factor VII is limited in patients with congenital platelet disorders. Safety and efficacy are still are being evaluated.

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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

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  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].

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  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].

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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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