Protocolo de actuación en la sospecha clínica de enfermedad metabólica del hígado

Hemochromatosis is the most frequent hereditary disorder in the Caucasian population. It is characterized by a synthetic defect of hepcidine, usually associated to HFE gene mutations. This hormone is the key factor in the regulation of iron metabolism. Clinical manifestations are associated with variable degrees of tissue iron overload. Importantly, not all the cases with the mutation develop clinical manifestations. Wilson disease is associated with a decreased excretion of copper which results in its accumulation, especially in the liver and in the brain. Its clinical expression varies from acute liver failure to chronic liver disease and cirrhosis with or without neurological manifestations.