Understanding and Managing Inherited Platelet Disorders: A Case Study of Storage Pool Disease

Abstract

Inherited platelet disorders, including platelet storage pool diseases (SPDs), manifest in various bleeding symptoms, with severity often categorized based on their effects on either the surface receptors or internal structures of platelets [1]. This rare condition, characterized by defects in platelet granules, exhibits broad phenotypic variability, ranging from mild bruising to severe hemorrhages. Diagnosis involves specialized analyses such as platelet aggregation and genetic studies, necessitating a multidisciplinary approach for management [2]. Our case report describes a child with recurrent epistaxis, initially diagnosed with immune thrombocytopenia. Subsequent presentations led to suspicion of von Willebrand disease, but further examinations revealed a platelet function disorder. Genetic testing confirmed mutations associated with SPD. Treatment options include desmopressin, antifibrinolytic agents, and platelet transfusions, tailored to individual needs. The discussion underscores the diverse manifestations of SPD, emphasizing the importance of thorough diagnostic assessments. Treatment strategies aim to alleviate bleeding symptoms and mitigate associated risks, with a strong focus on personalized care. Challenges in managing SPD include missed diagnoses and the influence of genetic variations on disease severity. Ultimately, early detection and individualized therapies are essential for effectively managing SPD, underscoring the ongoing need for research to enhance outcomes for affected individuals.