Which GI history findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Because patients with Hermansky-Pudlak syndrome have platelet dysfunction, albinism, and ceroid accumulation, clinical history that relates to these complications must be investigated.

When the intestines accumulate ceroid, patients can have diarrhea, weight loss, cramps, and possibly blood in the stool. These manifestations resemble those of inflammatory bowel disease, with the onset of symptoms occurring in patients aged 12-30 years. Response to medical therapy generally is poor. One article reported 2 children, aged 7 years and 3 years, with granulomatous colitis in association with Hermansky-Pudlak syndrome. [23] One of these children was Puerto Rican. Hazzan et al [24] noted Crohn disease–like colitis, enterocolitis, and perianal disease in a patient with Hermansky-Pudlak syndrome, suggesting that the intestinal pathology of Hermansky-Pudlak syndrome results from the development of classic Crohn disease.


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