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.
D69.1 – Qualitative platelet defects
54569005 – Bernard Soulier syndrome
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)