Bernard-Soulier Syndrome

Alternative Names

  • BSS
  • Bleeding Disorder, Platelet-Type, 1
  • BDPLT1
  • Platelet Glycoprotein Ib Deficiency
  • Glycoprotein Ib, Platelet, Deficiency of
  • Von Willebrand Factor Receptor Deficiency
  • Bernard-Soulier Syndrome, Type A1
  • Bernard-Soulier Syndrome, Type B
  • Bernard-Soulier Syndrome, Type C
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

231200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q21.3,17p13.2,22q11.21

Description

Bernard Soulier syndrome (BSS) is a rare autosomal recessive platelet disorder characterized by macrothrombocytopenia (unusually large platelets that are fewer than normal in number), epistaxis, and bruising susceptibility. Affected individuals may experience spontaneous bleeding or abnormally heavy and prolonged bleeding following minor injuries. Additionally, some patients may have petechiae as a result of bleeding under their skins. Women with BSS usually experience heavy or prolonged menstrual periods.

BSS is estimated to occur 1 in one million individuals. Diagnosis of the condition is based on the findings of prolonged bleeding time, reduced platelet glycoprotein Ib complex, and absence of platelet agglutination in presence of ristocetin. Hematological findings include the presence of large platelets and mild thrombocytopenia. Like most genetic conditions, there is no cure for BSS. Bleeding episodes can be managed by platelet transfusions, preferably from HLA-matched donors. Affected individuals are advised to avoid contact sports and other situations which might lead to bleeding.

BBS is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9.  These genes produce a protein complex called glycoprotein (GP) Ib found on the surface of platelets and plays a vital role in blood clotting.  Mutations in GP1BA, GP1BB, or GP9 prevent the formation of the GPIb complex or impair its ability to interact with von Willebrand factor.  As a result clot formation is impaired, leading to the excessive bleeding seen in patients with BSS.

Molecular Genetics

BBS is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9.  These genes produce a protein complex called glycoprotein (GP) Ib found on the surface of platelets and plays a vital role in blood clotting.  Mutations in GP1BA, GP1BB, or GP9 prevent the formation of the GPIb complex or impair its ability to interact with von Willebrand factor.  As a result clot formation is impaired, leading to the excessive bleeding seen in patients with BSS.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
231200.1SyriaMaleNoNo Bruising susceptibility; Epistaxis; Ma...NM_000407.4:c.423C>AHomozygousAutosomal, RecessiveMahfouz et al., 2012 Proband

Other Reports

Saudi Arabia

El-Bostany et al. (2008) recruited 43 children and adolescents from Saudi Arabia and Egypt with various bleeding disorders to assess the prevalence of inherited bleeding disorders (IBD).  Their ages ranged from 1-18 years.  They also included 15 matched controls.  Extensive medical and family history was performed besides clinical examinations.  Extensive laboratory work-ups were performed including complete blood count, coagulation studies and platelets functional analyses.  El-Bostany et al. (2008) found that seven of these patients were diagnosed with platelet dysfunction.  Among these, one case was diagnosed to have BSS based on giant platelet morphology with the lack of ristocetin-induced aggregation.  

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