Bernard-Soulier Syndrome Clinical Presentation

Updated: Sep 16, 2022
  • Author: John D Geil, MD; Chief Editor: Hassan M Yaish, MD  more...
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History and Physical Examination

Symptoms of Bernard-Soulier syndrome (BSS) are consistent with low or dysfunctional platelets and include easy bruising, nosebleeds, mucosal bleeding, menorrhagia, and, occasionally, gastrointestinal bleeding. The severity of symptoms may vary considerably.

The physical examination findings are consistent with low or dysfunctional platelets and may include increased bruising and mucosal bleeding.

A retrospective study from Pakistan, by Farhan et al, found that among 49 patients with BSS, epistaxis was one of the most common presenting symptoms, occurring in 73.4% of subjects. Complete blood counts (CBCs) revealed platelet reductions in 85.7% of patients, with the platelet counts ranging from 20 x 109/L to 130 x 109/L. Anemia and prolonged bleeding time occurred in 67.3% and 93.8% of patients, respectively, while mild bleeding episodes were experienced by 65.3% of patients. As evidenced by peripheral blood smears, all patients were found to have giant platelets. The investigators also found a family history of consanguinity in 81% of subjects. [10]