*EMBARGOED All research presented at the ACG Annual Scientific Meeting is strictly embargoed until Monday, October 19, 2015 at 8 AM (EDT).



Anthony Sofia, MD
Anthony Sofia, MD

Poster 1087 Two Cases of Hermansky – Pudlak

Syndrome Highlights a Potential Biologic Explanation for Associated CD

Author Insight from M. Anthony Sofia, MD, University of Chicago Medicine

What’s new here and important for clinicians?

We are presenting two cases of Crohn’s disease in two Hispanic men with a rare genetic syndrome called Hermansky-Pudlak syndrome (HPS). HPS manifests as oculocutaneous albinism with platelet dysfunction, and is associated with Crohn’s disease. HPS is caused by mutations in genes that regulate endosome trafficking. Many patients with HPS are Hispanic because of a founder mutation in the Puerto Rican population. Additionally, there are several subtypes of HPS, but only two subtypes are associated with Crohn’s disease. These two subtypes cause mutations in the same protein, but the underlying pathophysiologic connection of this protein to Crohn’s disease is not known. Prior case reports hypothesized that intestinal inflammation in HPS associated Crohn’s disease is caused by the inability of cells to digest the waste product lipofuscin. We instead hypothesize a different mechanism by which the mutated gene in HPS could be involved with colonic epithelial barrier function. We cite studies that suggest endosome trafficking is an important factor in intestinal epithelial barrier function, and may be abnormal in Crohn’s disease. Cases like these are important because the study of single gene mutation syndromes associated with Crohn’s disease can help inform the study of spontaneous Crohn’s disease.

What do patients need to know?

The study of rare diseases like Hermansky-Pudlak syndrome can help in the search for the causes of Crohn’s disease. We believe that the connection between the two diseases could be due to an abnormal relationship between the cells lining the colon and the bacteria within the colon.

Read Abstract

Author Contact M. Anthony Sofia, MD, University of Chicago Medicine




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