[Idiopathic hemochromatosis: current problems in diagnosis and therapy]

The main interest in idiopathic hemochromatosis (IH) currently centers more and more on early detection of the basic pathogenetic mechanisms of the disease, and on the prevention of organ lesions rather than therapy of the late syndrome. An understanding of the pathophysiology of this inborn error of iron metabolism, which is briefly outlined, enables the physician to motivate a still healthy potential IH patient for the simple but life-long therapeutic regimen (phlebotomy). The possible organ lesions of IH are briefly mentioned, and early recognition of arthropathy as a far from exceptional first symptom of the disease is emphasized. With regard to the detection of the latent disease, the practical value of liver biopsy, serum iron, the still debated serum ferritin, and the desferrioxamine test are discussed. Personal experience with a new and sensitive test for the screening of relatives, the cobalt absorption/excretion test, is also presented. After the recent clarification of the mode of inheritance of IH (autosomal recessive), the question arises whether heterozygote individuals, who obviously exhibit increased iron absorption, augmented transferrin saturation and an increased hepatic iron content, should also be treated prophylactically.