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Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report

Year: 2026

Type: article

Abstract: Bernard Soulier syndrome (BSS) is a rare autosomal recessive disorder that presents with giant platelets, prolonged bleeding time, and mucocutaneous bleeding. As it is a rare disorder and shares overlapping clinical features with other bleeding disorders, it is often misdiagnosed as immune thrombocytopenia purpura (ITP), which can result in inappropriate and aggressive management. This report explores the case of a young female patient who presented with recurrent epistaxis and ecchymotic episodes since childhood. She was misdiagnosed and treated for ITP, and due to refractory symptoms, she underwent splenectomy and experienced temporary symptom improvement. However, the symptoms returned, and further workup with ristocetin and flow cytometry confirmed her diagnosis of BSS. This case underscores the importance of considering an alternative diagnosis for ITP, particularly when the presentation is atypical and the treatment response is also unusual. Additionally, it examines whether splenectomy is associated with better outcomes for these patients.

Source: Cureus

DOI: 10.7759/cureus.103614

Authors: Misha Jannat, Abdul Raffeh Basit, Saad Khurram, Rayshum Jarral, Muhammad Hassan Qureshi

Institutions: Queen Mary University of London, CMH Lahore Medical College and Institute of Dentistry, Combined Military Hospital, Cambridgeshire and Peterborough NHS Foundation Trust, Anglia Ruskin University

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7128926369