Skip Navigation LinksHome > September 2011 - Volume 45 - Issue 8 > The Management of Gastrointestinal Disease in Hermansky-Pudl...
Journal of Clinical Gastroenterology:
doi: 10.1097/MCG.0b013e3181fd2742
ALIMENTARY TRACT: Case Report

The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome

Mora, Adrian J. BS*; Wolfsohn, David M. MD

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Abstract

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.

© 2011 Lippincott Williams & Wilkins, Inc.

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