Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bernard-Soulier syndrome

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

Historical Aspects

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.[Error: Macro 'ref' doesn't exist]

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.[Error: Macro 'ref' doesn't exist]

Clinical Findings

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.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
Bleeding disorder platelet-type 9
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia 3
Wiskott–Aldrich syndrome

References:

1.

Nurden AT et al. (1975) Specific roles for platelet surface glycoproteins in platelet function.

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2.

Lanza F et al. (2006) Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

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3.

BERNARD J et al. (1948) [Not Available.]

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4.

Gröttum KA et al. (1969) Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane.

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5.

López JA et al. (1998) Bernard-Soulier syndrome.

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Update: Sept. 26, 2018