Case Report
Copyright ©2005 Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jun 7, 2005; 11(21): 3323-3326
Published online Jun 7, 2005. doi: 10.3748/wjg.v11.i21.3323
Occult celiac disease prevents penetrance of hemochromatosis
Andreas Geier, Carsten Gartung, Igor Theurl, Guenter Weiss, Frank Lammert, Christoph G. Dietrich, Ralf Weiskirchen, Heinz Zoller, Benita Hermanns, Siegfried Matern
Andreas Geier, Carsten Gartung, Frank Lammert, Christoph G. Dietrich, Siegfried Matern, Department of Internal Medicine III, Aachen University (RWTH), Aachen, Germany
Igor Theurl, Guenter Weiss, Heinz Zoller, Department of Internal Medicine, University of Innsbruck, Innsbruck, Austria
Ralf Weiskirchen, Department of Clinical Chemistry and Pathobiochemistry, Aachen University (RWTH), Aachen, Germany
Benita Hermanns, Department of Pathology, Aachen University (RWTH), Aachen, Germany
Author contributions: All authors contributed equally to the work.
Correspondence to: Andreas Geier, MD, Department of Internal Medicine III, Aachen University (RWTH), Pauwelsstrasse 30, D-52074 Aachen, Germany. ageier@ukaachen.de
Telephone: +49-241-8088634 Fax: +49-241-8082455
Received: July 5, 2004
Revised: July 6, 2004
Accepted: September 19, 2004
Published online: June 7, 2005
Abstract

AIM: To report a patient with C282Y homozygocity, depleted body iron and intestinal atrophy caused by celiac disease (CD) who experienced resolution of the enteropathy with subsequent normalization of iron metabolism upon gluten-free diet.

METHODS: To obtain information on the tissue distribution and quantitative expression of proteins involved in duodenal iron trafficking, we determined the expression of divalent-metal transporter 1 (DMT1), ferroportin 1 (FP1) and transferrin receptor (TfR1) by means of immunohist-ochemistry and real-time PCR in duodenal biopsies of this patient.

RESULTS: Whereas in hereditary hemochromatosis patients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein and mRNA expression of DMT1 as a compensatory mechanism in this patient with HH and CD.

CONCLUSION: Occult CD may compensate for increased DMT1 expression in a specific subset of individuals with homozygous C282Y mutations in the hemochromatosis (HFE) gene, thus contributing to the low penetrance of HH.

Keywords: Hemochromatosis; Celiac disease; Divalent-metal transporter 1; Transferrin receptor; Iron metabolism