A patient with hereditary hemochromatosis, ulcerative colitis, and primary sclerosing cholangitis: genetic aspects.
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.
Ponsioen
C Y
CY
Department of Internal Medicine, Hilversum Hospital, P.O. Box 10016, 1201 DA, Hilversum, The Netherlands. cponsioen@zhh.nl
Stokkers
P C
PC
vd Horst
A R
AR
Tytgat
G N
GN
van Deventer
S J
SJ