A patient with hereditary hemochromatosis, ulcerative colitis, and primary scler

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0953-6205 2001 Dec;12(6):518-521

A patient with hereditary hemochromatosis, ulcerative colitis, and

primary sclerosing cholangitis: genetic aspects.

Ponsioen CY, Stokkers PC, vd Horst AR, Tytgat GN, van Deventer SJ.

Department of Internal Medicine, Hilversum Hospital, P.O. Box 10016,

1201 DA, Hilversum, The Netherlands

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.