Title:Management Perspective of Wilson’s Disease: Early Diagnosis and Individualized Therapy
Volume: 19
Issue: 4
Author(s): Xiang-Zhen Yuan, Ren-Min Yang and Xiao-Ping Wang*
Affiliation:
- Department of Neurology, TongRen Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai,China
Keywords:
Wilson's disease, ceruloplasmin, copper homeostasis, genetics, diagnosis, management.
Abstract: Wilson’s disease (WD) is an inherited disease caused by mutations in ATP7B and is
characterized by the pathological accumulation of copper in the liver and brain. Common clinical
manifestations of WD include a wide range of liver disease and neurological symptoms. In some
patients, psychiatric symptoms may be the only manifestation at the time of diagnosis. The clinical
features of WD are highly variable and can mimic any disease of internal medicine. Therefore, for
unexplained medical diseases, the possibility of WD should not be ignored. Early diagnosis and
treatment can improve the prognosis of WD patients and reduce disability and early death. Gene
sequencing is becoming a valuable method to diagnose WD, and if possible, all WD patients and
their siblings should be genetically sequenced. Copper chelators including D-penicillamine, trientine,
and dimercaptosuccinic acid can significantly improve the liver injury and symptoms of WD
patients but may have a limited effect on neurological symptoms. Zinc salts may be more appropriate
for the treatment of asymptomatic patients or for the maintenance treatment of symptomatic
patients. High-quality clinical trials for the drug treatment of WD are still lacking, therefore, individualized
treatment options for patients are recommended. Individualized treatment can be determined
based on the clinical features of the WD patients, efficacy and adverse effects of the drugs,
and the experience of the physician. Liver transplantation is the only effective method to save patients
with acute liver failure or with severe liver disease who fail drug treatment.
