Bernard–Soulier syndrome

Bernard–Soulier syndrome (also termed Bernard–Soulier disease, hemorrhagiparous thrombocytic dystrophy, giant platelet syndrome, and von Willebrand disease type B) is a rare inherited bleeding disorder that affects the platelets. It is characterized by unusually large platelets, a low number of platelets, and prolonged bleeding time. The syndrome is caused by a deficiency or dysfunction of the glycoprotein Ib-IX-V complex, a platelet membrane protein that is critical for platelet adhesion to the subendothelium.

Symptoms

The symptoms of Bernard–Soulier syndrome typically include easy bruising, nosebleeds, and prolonged bleeding after injury or surgery. Women with this condition may experience heavy menstrual bleeding. The severity of the bleeding symptoms can vary among affected individuals.

Causes

Bernard–Soulier syndrome is caused by mutations in the GP1BA, GP1BB, or GP9 genes. These genes provide instructions for making parts of the glycoprotein Ib-IX-V complex. This complex binds to a protein called von Willebrand factor, a critical step in the formation of blood clots. Mutations in the GP1BA, GP1BB, or GP9 genes reduce the number of glycoprotein Ib-IX-V complexes or alter their structure, impairing the ability of platelets to stick to the site of a wound and form a clot.

Diagnosis

The diagnosis of Bernard–Soulier syndrome is based on the clinical symptoms, a complete blood count, blood smear examination, and specialized platelet function tests. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for Bernard–Soulier syndrome. Treatment is aimed at controlling bleeding episodes, which may include platelet transfusions, antifibrinolytic drugs, and desmopressin.

See also

• Platelet
• Bleeding disorder
• Von Willebrand factor
• GP1BA
• GP1BB
• GP9

References

Bernard–Soulier syndrome Resources
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