Hermansky-pudlak syndrome-associated inflammatory bowel disease: a systematic review on clinical manifestations and investigations into optimal management

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal condition resulting from a mutation in 1 of at least 7 different genes leading to the triad of tyrosine-positive oculocutaneous albinism, platelet dysfunction leading to prolonged bleeding time, and ceroid lipofuscin within the reticuloendothelial system. The latter of these can result in systemic derangements including renal failure, pulmonary fibrosis, cardiomyopathy, and a disabling granulomatous colitis. This colitis is a unique type of inflammatory bowel disease (IBD) with complications such as intestinal fistulization, ileitis, enterocolitis and perianal disease.

Source: Gastroenterology - January 25, 2024 Category: Gastroenterology Authors: Clive Miranda, Nariman Javaheri, Alexander Carlson, Ali Aijaz, Naren Nallapeta Source Type: research