Granulomatous Enterocolitis Associated with Hermansky-Pudlak Syndrome

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. It consists of a triad of tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding diathesis resulting from platelet dysfunction, and systemic complications associated with accumulation of ceroid lipofuscin. Many patients are from a small area in northwestern Puerto Rico. HPS has been associated with granulomatous enterocolitis in up to 20% of affected patients. It is not known whether this granulomatous colitis is a part of the syndrome, or represents an independent but associated process, such as Crohn's disease. This colitis can be severe, and has been reported to be poorly responsive to medical therapies including sulfasalazine, mesalamine, steroids, and metronidazole. We report a series of four patients with refractory enterocolitis in the setting of HPS who were treated at Mount Sinai Hospital between 1998 and 2005. A trial of infliximab was attempted in all four, and produced a complete response in two. Many phenotypic and pathologic similarities exist between granulomatous enterocolitis in HPS and Crohn's disease. However, it is unclear whether the granulomatous enterocolitis in HPS is because of ceroid deposition or reflects the coexistence of Crohn's disease and HPS. The occurrence of ileal involvement and perianal fistulization in our cases suggests that in at least some instances, HPS and Crohn's disease are truly associated.