The First Case of Bernard-Soulier Syndrome Presenting with Isolated Hemoptysis and Probable Diffuse Alveolar Hemorrhage: A Case Report and Literature Review

Abstract

Bernard-Soulier syndrome (BSS) is a rare platelet function disorder due to an impaired GPIb-V-IX complex, with an estimated incidence of one per million. Usual presentations include gingival bleeding, epistaxis, easy bruising, and post-traumatic excessive bleeding, among others, but not hemoptysis. The patient was a 46-year-old male who presented with three cups of hemoptysis two days before the presentation. He also had moderate burning chest pain for the past two weeks, which was getting better. He was diagnosed with BSS 45 years ago and had approximately 100 prior presentations for bleeding from various locations, including three prior episodes of hemoptysis. The mainstay of treatment was platelet transfusions, and the patient was carefully observed. Only one case of hemoptysis in a patient with BSS was found, but the patient had hemoptysis due to underlying pulmonary tuberculosis. Therefore, hemoptysis or DAH were never reported in the literature due to BSS. This patient was the first case of massive hemoptysis and possible DAH related to BSS, emphasizing the need for proper attention due to its possible detrimental outcomes.

Keywords

• Bernard-Soulier syndrome
• Coagulation disorder
• Diffuse alveolar hemorrhage
• Hemoptysis
• Platelet dysfunction