Send to

Choose Destination
J Clin Gastroenterol. 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742.

The management of gastrointestinal disease in Hermansky-Pudlak syndrome.

Author information

†Yale-New Haven Hospital *Yale University School of Medicine, New Haven, CT 06510, USA.


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center