Système gastro-intestinal et digestif

Abstrait

The Modern Treatment of Wilsons Disease

George J. Brewer

Wilson’s disease is an inherited defect in biliary copper excretion, causing a buildup of copper and copper toxicity, primarily in liver and brain. Presentation with liver disease and/or neurological disease usually occurs in the second and third decades of life. Recognition of the disease is often delayed, which is unfortunate, because once appropriate treatment is started, progression of the disease can be halted, and further damage avoided. Regarding current treatment, many physicians are only aware of penicillamine, because it was the first orally effective drug developed. However, penicillamine has outlived its usefulness, being more toxic than more recently developed drugs. For the hepatic presentation, a combination of trientine and zinc should be used for 4-6 months, then trientine stopped and zinc used for lifelong maintenance therapy. For the neurological presentation, tetrathiomolybdate should be used if available for 8-16 weeks, then zinc for maintenance. If tetrathiomolybdate is not available, zinc should be used. For presymptomatic patients, zinc should be used from the beginning. Zinc should also be used for pregnant and pediatric patients, with a reduced dose for the latter. Zinc causes gastric intolerance in some patients, so in all cases where zinc is the favored therapy, if it is not tolerated, then trientine should be used as second choice. In too many cases, patients are put on zinc, compliance not monitored, and then papers are written about “zinc failures”. There are no zinc failures, just noncompliance problems.