Abstract
Bernard-Soulier syndrome (BSS) is a rare mostly autosomal recessive platelet function disorder that is characterized by variable bleeding tendency, macrothrombocytopenia, impaired platelet agglutination in response to ristocetin, and defect in the glycoprotein (GP) Ib-IX-V complex. This disorder is due to mutations in one of the GPIb-IX-V complex encoding genes. BSS is usually present early in life with different bleeding diathesis including epistaxis, gingival bleeding, and purpura. Although diagnosis of some of severe inherited platelet function disorders (IPFD) such as BSS and Glanzmann thrombasthenia (GT) is straightforward, misdiagnosis is a challenge in BSS such as in many other IPFD. A considerable number of these patients initially are misdiagnosed as immune thrombocytopenic purpura (ITP), but further studies can resolve this issue. In addition to routine laboratory assessments, more specific laboratory studies such as aggregometry assays, flow cytometry, and molecular analysis can help to precise and timely diagnosis of disorder. BSS treatment includes supportive cares as well as specific treatment of bleeding episodes.
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Ghasemi, B., Dorgalaleh, A. (2018). Bernard-Soulier Syndrome. In: Dorgalaleh, A. (eds) Congenital Bleeding Disorders . Springer, Cham. https://doi.org/10.1007/978-3-319-76723-9_15
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