title: Concomitant presentation of collagenous sprue and HFE hemochromatosis.
abstract: Collagenous sprue (CS) is a progressive malabsorptive disorder characterized by collagen deposition beneath the basement membrane of small bowel epithelium in refractory celiac sprue. CS is a pathologically distinct entity from celiac disease, despite a similar clinical presentation. The etiology of CS is unclear, although there are speculations that CS and celiac disease may share similar pathogenetic pathways. On the other hand, HFE hemochromatosis (HH) is a distinct disease entity. Celiac disease and HH are common HLA-associated genetic disorders in Northern European populations. There are a few case reports linking celiac disease and HH. We present a patient diagnosed with concurrent CS and HH.
authors.affiliation: The Cleveland Clinic, Department of Gastroenterology and Hepatology, USA. parisik@ccf.org
authors.forename: Keely R
authors.initials: KR
authors.lastname: Parisian
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Plesec
authors.forename: Kyrsten D
authors.initials: KD
authors.lastname: Fairbanks
authors.forename: Anthony S
authors.initials: AS
authors.lastname: Tavill
authors.forename: Bo
authors.initials: B
authors.lastname: Shen
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D046729:Colitis, Collagenous / Q000150:complications* / Q000175:diagnosis; D003094:Collagen / Q000378:metabolism*; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008099:Liver / Q000473:pathology; D008286:Malabsorption Syndromes / Q000150:complications* / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D003094:Collagen