{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T06:05:41Z","timestamp":1778393141003,"version":"3.51.4"},"reference-count":58,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T00:00:00Z","timestamp":1610236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky\u2013Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective biogenesis of lysosome\u2010related organelles, could provide insights into IBD in general.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To expand the understanding of IBD in patients with HPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective review of records from patients with HPS evaluated at the National Institutes of Health Clinical Center from 1995 to 2019 was conducted. Clinical features of IBD, genotyping results and histologic findings of colectomy specimens were analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>IBD affected 37 (14.2%; 12 male, 25 female) of 261 patients with HPS. Median age of onset was 17\u00a0years; range was 1 to 52\u00a0years. The most common symptoms of HPS IBD were hematochezia, abdominal pain and loose stools. Fistulae or extra\u2010intestinal manifestations developed in 30% or 22%, respectively. Genotyping showed that patients with biallelic variants in <jats:italic>HPS1<\/jats:italic>, <jats:italic>HPS3<\/jats:italic>, <jats:italic>HPS4<\/jats:italic> or <jats:italic>HPS6<\/jats:italic> were diagnosed with IBD. Six children had very early\u2010onset IBD. Patients with HPS\u20103 had mild manifestations of IBD. Medical therapy and bowel resection were utilized to treat 73% and 35% of patients with HPS IBD, respectively; 7 of 13 patients receiving anti\u2010tumor necrosis factor alpha therapy had prolonged clinical responses. Active cryptitis, chronic inflammatory changes, granulomas and ceroid lipofuscinosis were histopathologic findings in three colectomy specimens.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>IBD resembling Crohn\u2019s disease affects some patients with HPS; genetic heterogeneity is a feature of HPS IBD. <jats:italic>HPS3<\/jats:italic> is a new gene associated with human IBD. 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