Occult celiac disease prevents penetrance of hemochromatosis.
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.
Geier
Andreas
A
Department of Internal Medicine III, Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany. ageier@ukaachen.de
Gartung
Carsten
C
Theurl
Igor
I
Weiss
Guenter
G
Lammert
Frank
F
Dietrich
Christoph-G
CG
Weiskirchen
Ralf
R
Zoller
Heinz
H
Hermanns
Benita
B
Matern
Siegfried
S
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
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