Clinical Dilemma, Bernard Soulier Syndrome versus Immune Thrombocy-topenic Purpura: A Case Report

Abstract

Background: Bernard Soulier Syndrome (BSS) is a rare autosomal recessive disorder due to deficiency or dysfunction of the glycoprotein GPIb-V-IX complex on the platelet surface. It is also known as hemorrhagiparous thrombocytic dystrophy or congenital hemorrhagiparous thrombo-cytic dystrophy. The patient usually presents with severe and prolonged bleeding along with charac-teristics of giant blood platelets and low platelet counts. Manifestations of BSS include epistaxis, gum bleeding, purpuric rashes, menorrhagia, rarely melena, and hematemesis. On the other hand, immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder in which there is ac-celerated platelet destruction and reduced platelet production. Isolated thrombocytopenia without fever, lymphadenopathy, and organomegaly usually lead to the diagnosis of immune thrombocyto-penia. Case Presentation: A 20 years old female presented with complaints of recurrent episodes of epi-staxis since childhood and menorrhagia during menarche. She was misdiagnosed as ITP elsewhere. Later, based on thorough clinical examination and investigation, the diagnosis was confirmed as BSS. Conclusion: BSS should always be taken in the differential diagnosis of ITP, especially when per-sistent, refractory, and treated unsuccessfully with steroids or splenectomy. © 2023 Bentham Science Publishers.