Hereditary hemochromatosis in a 46-year-old man.
A 46-year-old man experienced weakness, lassitude, and vague, aching abdominal pain in the right upper quadrant. Physical examination was notable for hepatomegaly and slight hyperpigmentation of the hands. Elevated levels were revealed on liver function tests, and massive iron deposition was shown on liver biopsy. The patient was started on a therapeutic regimen of 400-ml phlebotomies. Hereditary hemochromatosis is an iron-storage disease in which total body iron stores can reach incredibly high levels, leading to damage of the liver, heart, pancreas, and pituitary gland. The most specific screening test is measurement of the serum concentration of ferritin, and a transferrin saturation determination is also helpful in diagnosis. Phlebotomy is still the treatment of choice, although new ways of administering chelating agents are being investigated.
D001815:Bloodletting; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007501:Iron / Q000032:analysis; D008099:Liver / Q000032:analysis; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology
D007501:Iron