Hermansky-Pudlak Syndrome: Understanding, Implications, and Support

This presentation provides a comprehensive overview of Hermansky-Pudlak Syndrome (HPS), discussing its definition, historical background, and prevalence. Clinical features, including symptoms, complications, and their impact on daily life, are explored. Pathophysiology and genetics are analyzed with a focus on lysosomal dysfunction, gene mutations, and inheritance patterns. Management strategies, covering symptom control, medication, and lifestyle recommendations, are outlined to guide...