The Management of Gastrointestinal Disease in Hermansky-Pudlak SyndromeMora, Adrian J. BS*; Wolfsohn, David M. MD†Journal of Clinical Gastroenterology: September 2011 - Volume 45 - Issue 8 - p 700–702 doi: 10.1097/MCG.0b013e3181fd2742 ALIMENTARY TRACT: Case Report Abstract Author Information Hermansky-Pudlak syndrome (HPS) was first described in 1959 by Hermansky and Pudlak. Clinically, HPS is characterized by oculocutaneous albinism, platelet storage pool deficiency, and ceroid tissue accumulation. It is a rare disorder that has been described globally but has the highest frequency in a cluster population in Puerto Rico. HPS patients also have major organ involvement that typically includes pulmonary fibrosis and granulomatous colitis. Rarely have cardiomyopathy and renal dysfunction been described. We report a case of the oldest historical patient with HPS type 6 and the associated gastrointestinal management. †Yale-New Haven Hospital *Yale University School of Medicine, New Haven, CT There are no conflicts of interest or sources of financial support for the authors with the production of this manuscript. Reprints: David M. Wolfsohn, MD, Yale University School of Medicine, 40 Temple Street, Suite 4A, New Haven, CT 06510 (e-mail: firstname.lastname@example.org). © 2011 Lippincott Williams & Wilkins, Inc.