Granulomatous Colitis Due to Hermansky-Pudlak Syndrome

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.