Bernard-Soulier syndrome
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Synopsis
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
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Differential Diagnosis & Pitfalls
- Immune thrombocytopenia 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)
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Last Reviewed:05/24/2018
Last Updated:01/11/2022
Last Updated:01/11/2022