Abstract
Hepatolenticular degeneration (Wilson disease) is a rare inherited disease that usually affects the liver, but may present in different forms and have multiple systemic complications. Diagnosis requires a high index of suspicion, mainly in young patients, and to take into account the main risk groups. Opportune and adequate treatment is important to avoid complications. We present three cases of this disease occurring in a family from Granada (Antioquia, Colombia), and treated at a III level institution in Cali (Colombia). The index case debuted with neuropsychiatric disorder, the second one was diagnosed on the basis of the family history and the third one started with steatohepatitis. The diagnostic score proposed by the Eighth Meeting on Wilson’s disease was 3 in two of the patients, and 4 in the third one. They were treated with D-penicillamine and monitored for 5 years, with minimal adverse events and no evidence of disease progression.
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