[Genetic hemochromatosis: importance of population screening?].
Genetic hemochromatosis is a metabolic autosomal-recessive disease characterized by an iron excessive absorption; its subsequent accumulation in the liver, hearth, pancreas and endocrine glands, gives rise to organ damage and dysfunction. Recent studies of both screening tests and natural history have shown that the illness, once thought to be rare and fatal, is quite frequent (up to 2-5 homozygotes for 1000 inhabitants) and when recognized and treated before onset of cirrhosis, subjects affected have a normal life expectancy. Consequently, in order to reduce mortality from genetic hemochromatosis, mainly due to liver cirrhosis, frequently complicated with hepatocellular carcinoma, or congestive hearth failure, early diagnosis and therapeutic phlebotomy are essential. In order to achieve these aims, besides high clinical suspicion and familiar study, is fundamental to conduct systematic screening since, at present, little use is being made of this, even though numerous studies have recently shown its low cost and efficacy. The Authors, after an extensive review of the literature, underline the feasibility of screening on the general population and its extremely advantageous cost/benefit ratio.
Cartabellotta
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Istituto di Medicina Interna e Geriatria, Cattedra di Medicina Interna, Università, Palermo.
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D000328:Adult; D003362:Cost-Benefit Analysis; D005260:Female; D005819:Genetic Markers; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D006720:Homozygote; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000191:economics; D008875:Middle Aged; D011379:Prognosis
D005819:Genetic Markers
Emocromatosi genetica: verso lo screening di popolazione?