Bernard Soulier syndrome (BSS) is a hereditary disorder characterized by giant blood platelets, a low platelet count and bleeding tendency.
It is a genetic disease due to a deficiency or dysfunction of the glycoprotein GPIb-V-IX complex related to mutations on chromosome GPIBA (17p12), GPIBB (22q11.2), GP5 (3q29) or GP9 (3q21).
It is a hereditary syndrome transmitted with an autosomal recessive pattern, where both genes, one from each parent, must be mutated to suffer the disorder.
Bernard Soulier syndrome (BSS) is extremely rare with an estimated incidence of 1 case per 1 million people.
People affected with Bernard Soulier syndrome (BSS) tend to bleed and bruise excessively. The most common bleeding occurs in:
It is also common the presence of small tiny red or purple colored spots under the skin (purpura or petechiae).
In a blood test, people suffering the disorder, usually show macrothrombocytopenia characterized by:
There is also a defective ristocetin-induced platelet aggregation (RIPA). Ristocetin-induced platelet aggregation is absent in Bernard-Soulier syndrome
In general, no medication is needed in Bernard-Soulier syndrome.
Only in case of severe hemorrhage, platelet transfusion is recommended. Too many transfusions may develop antiplatelet antibodies.
People with mild BSS can sometimes be treated with Desmopressin (DDAVP) or Recombinant Factor VIIa (rVIIa, NovoSeven®) to prevent acute bleeds.
The prognosis is good and people with BSS may follow a normal life. They may need prophylaxis during surgical procedures (platelet transfusion).
Patients should be warned to avoid traumas, anticoagulants and antiplatelet medication, such as aspirin, that reduce the ability of the blood to clot.