Open AccessCrohn’s-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report
Author(s) -
Paul Girot,
Catherine Le Berre,
Astrid de Maissin,
Marie Freyssinet,
Caroline Trang-Poisson,
Arnaud Bourreille
Publication year - 2019
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v25.i8.1031
Subject(s) - medicine , hermansky–pudlak syndrome , colitis , gastroenterology , bleeding diathesis , chronic granulomatous disease , inflammatory bowel disease , pathology , infliximab , immunology , disease , platelet , lung , pulmonary fibrosis
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment.