Clinical feature: 

Definition: The Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder chracterized by prologed bleeding time, giant platelets, and low platelet counts.

History: The first patient had been published by Bernard and Soulier in 1948--a young man with a severe bleeding disorder: prolonged bleeding time, thrombocytopenia, and extremely large platelets. In 1969, a reduced electrophoretic mobility of the platelets had been detected, whose reason was a decreased silalic acid concentration on the cell membrane. Soon after that, platelet's inability to aggregate in the presence of ristocetin, as it is also observed with platelets in von Willebrand disease. It was not until 1975 that the disease was biochemically characterized by the absence of the glycoprotein I, the von Willebrand factor receptor, on the cell surface of platelets.

Epidemiology: About 100 cases have been described so far. It is a rare disease with an estimated prevalence of less than 1 per 1,000,000.

Clinical picture: The clinical picture is dominated by bleeding disorders, which under certain circumstances as trauma and surgical procedures can become life treatening. Usually minor bleedings abnormalities such as epistaxis, purpura, and bleedings into mucocutaneous tissues suggest the diagnosis.

Diagnostics: 

Differential: MYH9 related disorders are also autosomal dominant macrothrombocytopenias, but can also present with leukocyte inclusions, hearing loss, and nephritis.  » » » 
   Glanzmann thrombastenia is a recessive disorder characterized by a functional platelet disorder with normal platlet morphology.  » » » 

Literature: 

Lanza F et al. (2006) Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
López JA et al. (1998) Bernard-Soulier syndrome.
BERNARD J et al. (1948) [Not Available.]
Gröttum KA et al. (1969) Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane.
Nurden AT et al. (1975) Specific roles for platelet surface glycoproteins in platelet function.