Arthropathy, hypouricemia and normal serum iron studies in hereditary hemochromatosis.
A patient manifesting the arthropathy of hemochromatosis without abnormal serum iron studies is described. Hemochromatosis was confirmed by liver biopsy. This case serves to emphasize the diagnostic value of the characteristic arthropathy of hemochromatosis. Our observations in this patient support the hypothesis that the pathogenesis of hereditary hemochromatosis differs from that of acquired iron overload states. The concurrent presence of hypouricemia is explored in this patient and in 18 other patients with hereditary hemochromatosis. Men with hereditary hemochromatosis were found to have lower serum uric acid levels than expected. In our patient, a renal defect in tubular reabsorption of uric acid appears responsible for hypouricemia. The apparent association of hemochromatosis and hypouricemia deserves further investigation.
D001168:Arthritis / Q000473:pathology*; D001706:Biopsy; D006432:Hemochromatosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007501:Iron / Q000097:blood*; D008099:Liver / Q000473:pathology; D008297:Male; D008662:Metacarpophalangeal Joint / Q000473:pathology; D008875:Middle Aged; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D007501:Iron