Hermansky-Pudlak Syndrome: A Comprehensive Review of Clinical Presentation, Pathogenesis, and Therapeutic Strategies

Abstract

Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive disorder characterized by a complex clinical phenotype, including oculocutaneous albinism, bleeding diathesis, and a predisposition to pulmonary fibrosis. This article provides a comprehensive examination of HPS, encompassing its genetic underpinnings, molecular mechanisms, clinical manifestations, and emerging therapeutic interventions. HPS is primarily attributed to mutations in multiple genes, causing defects in the biogenesis of lysosome-related organelles, leading to platelet and granule abnormalities, which contribute to the bleeding diathesis. In addition, the oculocutaneous albinism associated with HPS is a result of impaired melanin synthesis. The article explores recent advancements in understanding HPS pathogenesis, such as aberrant platelet function and the dysregulation of various cellular pathways. Additionally, we discuss diagnostic challenges and the need for a multidisciplinary approach in managing patients with HPS. Furthermore, this review highlights the evolving landscape of therapeutic strategies, including experimental therapies targeting the underlying genetic defects, advances in supportive care for bleeding disorders, and novel approaches for managing pulmonary fibrosis. In conclusion, this article underscores the importance of ongoing research in HPS, emphasizing the potential for improved diagnosis and treatment outcomes in patients with this intriguing and complex syndrome.