Enfermedad de Wilson: experiencia de un centro de referencia en Colombia

Introduction: Wilson’s disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients. Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobon Uribe from January 2004 to September 2017. Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40 % of the patients had neurological symptoms, 29 % psychiatric symptoms, and 85 % hepatic impairment. Lab tests showed that 85 % had low ceruloplasmin and 55 % had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84 % had findings suggestive of Wilson’s disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51 % improved clinically or biochemically, 11 % remained stable, and 18 % deteriorated. 88 % of cases survived at the end of follow-up. Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.