title: Occult celiac disease prevents penetrance of hemochromatosis.
abstract: OBJECTIVE
  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 immunohistochemistry 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine III, Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany. ageier@ukaachen.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Geier
authors.forename: Carsten
authors.initials: C
authors.lastname: Gartung
authors.forename: Igor
authors.initials: I
authors.lastname: Theurl
authors.forename: Guenter
authors.initials: G
authors.lastname: Weiss
authors.forename: Frank
authors.initials: F
authors.lastname: Lammert
authors.forename: Christoph-G
authors.initials: CG
authors.lastname: Dietrich
authors.forename: Ralf
authors.initials: R
authors.lastname: Weiskirchen
authors.forename: Heinz
authors.initials: H
authors.lastname: Zoller
authors.forename: Benita
authors.initials: B
authors.lastname: Hermanns
authors.forename: Siegfried
authors.initials: S
authors.lastname: Matern
mesh_terms: D000368:Aged; D027682:Cation Transport Proteins / Q000235:genetics; D002446:Celiac Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006432:Hemochromatosis / Q000235:genetics* / Q000503:physiopathology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D019683:Penetrance; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000099236:Solute Carrier Family 11, Member 2; C103673:HFE protein, human