[Arthropathy of hereditary hemochromatosis].
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in populations of caucasian origin with a prevalence of 1 : 200-400 for homozygous patients. Currently, 4 types of HH are distinguished. The classical and most common form is type 1 hemochromatosis which is characterized by HFE gene mutations on chromosome 6. The disease results from an excessive iron absorption leading to multiple manifestations such as hepatomegaly, diabetes mellitus, cardiomyopathy, infertility, and hepatic fibrosis/cirrhosis if untreated. A distinct clinical feature of hemochromatosis is represented by involvement of the joints (arthropathy of hemochromatosis) which occurs frequently and often before iron overload is present. Severity of arthropathy usually does not correlate with the extent of iron overload. In contrast to most other manifestations, it is not improved by iron depletion but can be treated symptomatically. This review outlines clinical aspects as well as pathogenesis, diagnosis and therapy of the disease.
Medizinische Hochschule Hannover, Abteilung Rheumatologie, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. Rihl.Markus@MH-Hannover.de
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D001168:Arthritis / Q000175:diagnosis / Q000235:genetics*; D001175:Arthrography; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D015791:HLA-A3 Antigen / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics
C103673:HFE protein, human; D015791:HLA-A3 Antigen; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins