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The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome

Mora, 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

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: dwolfsohn@ctgastro.com).

© 2011 Lippincott Williams & Wilkins, Inc.