Bernard-Soulier Syndrome (BSS) & tuberculosis: A case report

Area of Science:

• Hematology
• Pulmonology
• Infectious Diseases

Background:

• Bernard-Soulier Syndrome (BSS) is a rare inherited bleeding disorder.
• Characterized by thrombocytopenia and prolonged bleeding times.
• Hemoptysis is not a typical manifestation of BSS.

Purpose of the Study:

• To report a case of massive hemoptysis in a patient with Bernard-Soulier Syndrome.
• To investigate the cause of hemoptysis in this patient.
• To emphasize the importance of considering differential diagnoses in BSS patients presenting with unusual symptoms.

Main Methods:

• A 14-year-old female with BSS presented with massive hemoptysis.
• Diagnostic workup included chest X-ray and rigid bronchoscopy.
• Sputum analysis revealed Mycobacterium tuberculosis infection.
• Treatment involved anti-tuberculosis therapy and management of drug interactions.

Main Results:

• Massive hemoptysis was successfully managed by removing intrabronchial clots.
• Pulmonary tuberculosis was diagnosed and treated effectively.
• Vaginal bleeding, a complication of drug interaction, was controlled with platelet and recombinant factor 7 infusions.
• The patient achieved complete resolution of tuberculosis and hemoptysis.

Conclusions:

• Hemoptysis in Bernard-Soulier Syndrome patients necessitates consideration of alternative diagnoses.
• Tuberculosis should be investigated in patients with hemoptysis, even those with bleeding disorders.
• Prompt diagnosis and management of underlying conditions are crucial for favorable outcomes.