Resumo

MATEU LY, Alain Daniel; GONZALEZ FABIAN, Licet  e  GRA ORAMAS, Bienvenido. Hypertransaminasemia, asthenia, arthralgia and skin hyperpigmentation. Medicentro Electrónica [online]. 2020, vol.24, n.4, pp. 842-849.  Epub 01-Out-2020. ISSN 1029-3043.

Hereditary hemochromatosis is an uncommon metabolic disease, primarily affecting the liver in which increased intestinal absorption of iron is seen. We presented a 49- year -old patient who was evaluated in an outpatient clinic for suffering from asthenia, anorexia, arthralgia and skin hyperpigmentation associated with hypertransaminasemia and negative serology for B and C viruses from about two years ago. Serum ferritin, and transferrin saturation levels evidenced iron overload and homozygosity for the C282Y mutation confirmed the suspected diagnosis; other conditions were ruled out such as chronic hepatitis due to B and C viruses, non-alcoholic steatohepatitis, chronic hemolytic anemia, sideroblastic anemia, thalassemia major or some other metabolic diseases affecting the liver. Liver biopsy showed typical findings related to this condition. Weekly phlebotomies were well tolerated, as well as clinical improvement of the patient and laboratory parameters were achieved.

Palavras-chave : hereditary hemochromatosis; C282Y mutation; iron overload.

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