An unusual gastrointestinal manifestation of Hermansky-Pudlak syndrome

May 14, 2008

HPS is an uncommon congenital bleeding disorder due to an underlying platelet function defect. As a result of intracytoplasmic organelle-specific protein biosynthesis and trafficking, HPS is a systemic illness. In addition to the syndromic association of oculocutaneous albinism and bleeding diathesis, the disease may be complicated by pulmonary, gastrointestinal, renal and immunologically disorders.

A report article to be published on May 14, 2008 in the World Journal of Gastroenterology presents a rare case.

Most patients who present with gastrointestinal problem have a clinical illness suggestive of Crohn's disease. The current report described by Lee et al is unique because: (1) Gastroduodenal manifestation is extremely rare; and (2) The condition may be confused with bleeding secondary to the underlying platelet defect. The authors presented well-written manuscript about previously unpublished gastrointestinal presentation of HPS. The diagnosis of syndrome was confirmed by oculocutaneus symptoms of albinism and platelet dysfunction with diminished number of dense bodies on electron photomicrograph.

Authors have also excluded all other possible causes of gastroduodenal ulceration: H pylori, NSAIDS, Z-E syndrome, etc., therefore the existence of causal relationship between HPS and gastroduodenal ulceration seems to be of a high probability.
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World Journal of Gastroenterology

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