Hépato-Gastro & Oncologie Digestive
MENUWilson's disease: Ten essential keys to optimize the care of patients Volume 27, issue 10, Décembre 2020
- Key words: Wilson's disease, screening, diagnosis, treatment, referral centers, disease management, genetics, neurological symptoms, relative exchangeable copper, exchangeable copper, liver transplant, treatment adherence
- DOI : 10.1684/hpg.2020.2075
- Page(s) : 990-8
- Published in: 2020
In France, the number of patients with Wilson's disease is estimated between 1,000 and 1,500. It is a monogenic disorder of autosomal recessive transmission whose gene is located on chromosome 13. Wilson's disease is linked to an accumulation of copper in the liver and then progresses to a systemic disorder. The first symptoms are most often hepatic in children and neuro psychiatric and hepatic in adults. The diagnosis can be made at any age and screening must be carried out in the whole family. Once the diagnosis has been mentioned, the copper balance and in particular the study of the ratio of exchangeable copper/total copper (REC) (rapid and sensitive test) allows, as a rule, confirmation of the diagnosis, while at the same time highlighting mutations by molecular biology in 98% of cases. Finally, the new trientine salt treatments make it possible to adapt the treatment as closely as possible to the needs of the patients.