A 21-Year-Old Male diagnosed with Bernard-Soulier Syndrome-Case Report

Bernard-Soulier Syndrome (BSS) is a rare autosomal recessive disorder characterized by the presence of large platelets and faulty platelet aggregation. Through this case report, we emphasize the various obstacles a male patient could face when diagnosed with BSS. Limited awareness and resources are among the most formidable challenges. Laboratory tests were carried out for the patient. They revealed severe thrombocytopenia (platelet count 8000/μL) and anemia (hemoglobin 9.7 g/dL). The clotting profile showed that prothrombin time and activated partial thromboplastin time were normal. It is crucial to recognize and manage this disease early, as inappropriate treatment will jeopardize the health of a patient who is suffering from recurrent mucocutaneous bleeding episodes. Financial barriers appear to be the most troublesome hindrances in conducting diagnostic tests and impeding the diagnosis. To reduce the rates of BSS and its effective management, heightened awareness among healthcare providers and the general population-particularly in communities with elevated rates of consanguinity is imperative.