Abstract
Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements. Granulomatous colitis may occur in the disease course and have similarities with Crohn's disease. Herein, we present four cases with Hermansky-Pudlak syndrome associated colitis with the longest follow-up period having various responses to different anti-TNF agents. Four patients with Hermansky-Pudlak syndrome colitis were started on anti-TNF agents between 2008 and 2013. After a mean follow-up period of 7.5 years, two of four patients exhibited a significant improvement in symptoms, whereas the other two experienced undesirable disease course. Although having many similarities with Crohn's disease; Hermansky-Pudlak syndrome colitis appears to have lower anti-TNF response rates. Pathophysiological differences need to be enlightened to find more appropriate therapeutic targets for Hermansky-Pudlak syndrome colitis.
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