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

## TL;DR

A young woman with Bernard Soulier Syndrome was misdiagnosed with ITP and underwent unnecessary treatment, highlighting the need for accurate diagnosis in rare bleeding disorders.

## Contribution

This case report highlights the diagnostic challenges of Bernard Soulier Syndrome and questions the effectiveness of splenectomy in such cases.

## Key findings

- The patient was initially misdiagnosed with ITP and underwent splenectomy with temporary improvement.
- Further testing confirmed the diagnosis of Bernard Soulier Syndrome.
- The case suggests the need for alternative diagnostic approaches in atypical ITP presentations.

## 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.