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.
An international, retrospective study by Orsini et al examining the risk of surgery-associated bleeding complications in patients with inherited platelet disorders found the incidence of surgical bleeding to be greatest in cases of biallelic BSS (44.4%). [12] 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. [13] The neonate born of a mother with BSS has a risk of significant bleeding due to neonatal alloimmune thrombocytopenia. [14]
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, when other treatments have failed. [15] 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.
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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.
