Medication Summary
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 with severe bleeds.
Antifibrinolytics
Class Summary
Fibrinolytic agents are used to enhance hemostasis when fibrinolysis contributes to bleeding.
Tranexamic acid (Cyklokapron)
Tranexamic acid is an alternative to aminocaproic acid. It inhibits fibrinolysis via inhibition of plasminogen activators.
Aminocaproic acid (Amicar)
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.
Vasopressin Related
Class Summary
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.
Desmopressin acetate (DDAVP, Stimate)
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.
Hemostatics
Class Summary
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.
Factor VIIa, Recombinant (NovoSeven)
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.
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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.
