Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
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

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:05/24/2018
Last Updated:01/11/2022
Copyright © 2024 VisualDx®. All rights reserved.
Bernard-Soulier syndrome
Print  
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.