Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and, in some subtypes, pulmonary fibrosis and colitis. HPS-associated colitis, particularly subtypes HPS-1 and HPS-4, often mimics Crohn's disease but exhibits a more refractory course, frequently necessitating immunomodulatory therapy and, in severe cases, surgical intervention. We present the case of a 24-year-old Puerto Rican male with infliximab-resistant HPS-associated colitis who developed a symptomatic sigmoid stricture, requiring laparoscopic low anterior resection with protective loop ileostomy. Preoperative hematologic optimization was essential due to the inherent platelet dysfunction in HPS. Histopathology confirmed chronic active colitis with transmural inflammation, fistulous tract formation, and ceroid deposition. This case underscores the complexity of managing refractory HPS colitis and highlights the role of early recognition and disease monitoring, optimization, and surgical intervention.