Bernard-Soulier Syndrome Medication
- Author: John D Geil, MD; Chief Editor: Hassan M Yaish, MD more...
In general, no medications are needed in Bernard-Soulier syndrome (BSS). Antifibrinolytic agents (eg, ε-aminocaproic acid and 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 BSS. Recombinant activated factor VII has also been used to treat congenital platelet disorders.
Fibrinolytic agents are used to enhance hemostasis when fibrinolysis contributes to bleeding.
Aminocaproic acid inhibits fibrinolysis via inhibition of plasminogen activator substances and, to a lesser degree, through antiplasmin activity. The main problems are that the thrombi forming during treatment are not lysed and that effectiveness is uncertain.
Tranexamic acid is an alternative to aminocaproic acid. It inhibits fibrinolysis by inhibiting plasminogen activators.
Desmopressin acetate (DDAVP) stimulates factor VIII, prostaglandins, and plasminogen release, but the mechanism of action is not clear and may not be common to all 3 substances. This agent exerts an effect on vessel walls that produces an increase in platelet adhesion. This local hemostatic action may account for its hemostatic properties.
DDAVP is used to decrease bleeding time in some, but not all, patients with BSS. It may be useful for minor bleeding episodes. The exact mechanism is unknown but may involve increased levels of vWF binding to some residual glycoprotein Ib in patients without an absolute deficiency.
Hemostasis is the physiologic 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 factor IX) function as cofactors in the blood coagulation cascade.
Recombinant factor VIIa is a vitamin K-dependent glycoprotein indicated for the treatment of bleeding episodes in patients with hemophilia A or B and inhibitors. It 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, factor IX to factor IXa, and factor II to factor IIa.
Experience with the use of recombinant factor VIIa is limited in patients with congenital platelet disorders. Safety and efficacy are still being evaluated.
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].
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].
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].
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].
Feng S, Christodoulides N, Kroll MH. The glycoprotein Ib/IX complex regulates cell proliferation. Blood. 1999 Jun 15. 93 (12):4256-63. [Medline].
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].
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].
Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007 Dec. 131(12):1834-6. [Medline].