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Bernard-Soulier syndrome
Other Resources UpToDate PubMed

Bernard-Soulier syndrome

Contributors: Nina Haghi MD, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Bernard-Soulier syndrome (BSS) is a rare inherited platelet disorder caused by a defect in any one of the four proteins that make up the platelet receptor called the glycoprotein Ib-IX-V complex (which binds von Willebrand factor), preventing platelets from adhering and agglutinating normally. It is characterized by low platelet counts, giant platelets, and bleeding and easy bruising.

BSS is inherited in an autosomal recessive fashion, affecting both sexes with equal frequency. It is seen in 1 in a million individuals. It is more commonly described in individuals of Northern European descent and those of Japanese descent. The condition is present at birth, although a few cases may not become evident until adulthood.

Patients have a tendency to bleed excessively from injuries and may have recurrent epistaxis and easy bruising; women may experience unusually heavy menstruation.

Codes

ICD10CM:
D69.1 – Qualitative platelet defects

SNOMEDCT:
54569005 – Bernard Soulier syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Immune thrombocytopenic purpura (ITP)
  • Drug-induced thrombocytopenia
  • Disseminated intravascular coagulation
  • Hemophilia A, Hemophilia B
  • Von Willebrand disease
  • Glanzmann thrombasthenia
  • Storage pool disease with dense body deficiency
  • Other inherited disorders (May-Hegglin syndrome, Sebastian syndrome, Fechtner syndrome, Epstein syndrome, DiGeorge syndrome, gray platelet syndrome, Montreal platelet syndrome, Paris-Trousseau syndrome)

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/24/2018
Last Updated:01/11/2022
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Bernard-Soulier syndrome
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A medical illustration showing key findings of Bernard-Soulier syndrome : Bleeding time prolonged, Easy bruising, Epistaxis, Menorrhagia, Gingival bleeding, PLT decreased
Copyright © 2024 VisualDx®. All rights reserved.