[Arthropathy as an early symptom of hemochromatosis. Overview of the literature and 7 case reports].
In seven patients with hemochromatosis, arthropathy was an early symptom, or first clinical symptom, of the hemochromatosis. In all seven patients, serum iron, transferrin saturation, and parameters of storage iron (serum ferritin, Desferal-test) were clearly elevated. In 5 patients hemochromatosis was associated with the HLA loci A3 and B7. Bone scan proved a sensitive detection method for hemochromatosis arthropathy. In one case joint involvement was detected by bone scan prior to clinical symptoms. Parameters of iron metabolism correlated well with other organ manifestations of hemochromatosis. In contrast, joint involvement did not correlate with parameters of iron metabolism or severity of hemosiderosis of other organs, and was not relieved by phlebotomy. These 7 cases confirm that joint symptoms can be an early or leading symptom of hemochromatosis, can lead to early therapy and thereby prevent major organ damage. It remains undecided, however, whether the arthropathy is a consequence of iron storage or an independent disease which is genetically associated with hemochromatosis.
D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007501:Iron / Q000097:blood; D007592:Joint Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D011859:Radiography; D011877:Radionuclide Imaging
D007501:Iron
Arthropathie als Frühsymptom der Hämochromatose. Literaturübersicht und Bericht über 7 Fälle.