title: [Diagnosis of hereditary hemochromatosis with molecular analysis of DNA in patients with anti-HCV positive liver cirrhosis. Clinical case].
abstract: A case of hereditary hemochromatosis in a patient affected by anti-HCV positive liver cirrhosis is described. The difficulties for an exact diagnosis are underlined. Really, it can be particularly difficult to make a differential diagnosis between hereditary hemochromatosis and secondary hemochromatosis, if liver cirrhosis has already been found. Practically, at this stage of disease, the histological and clinical aspects of these two forms become completely interchangeable. Moreover, diagnostic difficulties increase when, at the same time, the patient presents more causes of potential liver damage. In this case report, the DNA-analysis, obtained by polymerase chain reaction amplification and enzymatic digestion, allows to make the diagnosis of hereditary hemochromatosis, because it showed the presence of two genetic mutations, considered responsible for the disease. Both the hereditary hemochromatosis and the HCV infection, had greatly contributed to the development of liver cirrhosis. In the future, DNA-analysis by amplification with polymerase chain reaction, can assume relevant importance for the screening of affected patients' first grade parents too. It could permit an early diagnosis of hereditary hemochromatosis and then to start a timelier and more efficacious therapy, to prevent an irreversible histological damage.
authors.affiliation: Divisione di Medicina Interna, IRCCS, Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia.
authors.forename: A M
authors.initials: AM
authors.lastname: Carella
authors.forename: G
authors.initials: G
authors.lastname: Bianco
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D004247:DNA / Q000032:analysis; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006526:Hepatitis C / Q000150:complications*; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications* / Q000821:virology; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D004247:DNA
vernacular_title: Diagnosi di emocromatosi ereditaria mediante analisi molecolare del DNA in paziente con cirrosi epatica anti-HCV positiva. Caso clinico.