A patient with hereditary hemochromatosis, ulcerative colitis, and primary sclerosing cholangitis: genetic aspects.
case_report · Level V
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Abstract
This report describes a family in which the rare combination of hereditary hemochromatosis, ulcerative colitis and primary sclerosing cholangitis was found. Subsequent to the index patient, who had all three diseases, a screening was done in his parents and siblings that included HLA-DR, HLA-DQ and HFE typing, ANCAs, liver tests and sigmoidoscopy with histology. On the basis of HLA and HFE typing, three probable haplotypes could be distinguished. The genetics of inflammatory bowel disease and hereditary hemochromatosis are discussed.