Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders

Abstract

Background: Inherited platelet disorders (IPDs) are characterized by thrombocytopenia, platelet dysfunction, or both, leading to recurrent bleeding and diagnostic challenges. Advances in genetic testing have significantly improved early and accurate diagnoses. Objectives: This study aimed to evaluate the clinical and genetic spectrum of IPDs, identify diagnostic challenges, and assess outcomes of therapeutic interventions. Methods: We conducted a retrospective cohort study of 50 IPD patients. We performed clinical evaluations, peripheral smear analyses, and genetic testing to identify causative variants. Correlation between platelet counts, bleeding severity, and the effectiveness of treatments, such as hematopoietic stem cell transplantation and thrombopoietin receptor agonists, was analyzed. Results: A total of 54.5% of cases showed autosomal dominant inheritance. Diagnostic delays were common, with many patients initially misdiagnosed as having immune thrombocytopenic purpura (ITP). There was a moderate, negative, statistically significant correlation between platelet counts and bleeding severity. Peripheral smear findings, such as stomatocytosis and macrothrombocytopenia, provided critical diagnostic clues. We identified novel mutations in GP1BA, ITGB3, NBEAL2, WAS, and MPL genes, which expanded our understanding of IPDs. Different treatment modalities were used. Hematopoietic stem cell transplantation was performed in severe systemic cases, such as Wiskott–Aldrich syndrome. Sitosterolemia was treated with ezetimibe. Thrombopoietin receptor agonists reduced bleeding in some patients. Conclusion: Integrating genetic, clinical, and laboratory findings is essential in providing accurate diagnoses and management of IPDs. Early genetic diagnosis and personalized therapeutic strategies improve outcomes. Future research should focus on functional studies of novel mutations and refining treatment protocols to enhance care for this complex population. © 2025 The Author(s)