From the Guidelines
Wilson's disease has a prevalence of approximately 1 in 30,000 individuals worldwide, but its prevalence in the Chinese population is not explicitly stated in the provided evidence. The disease is characterized by the accumulation of copper in the liver, brain, and other tissues due to mutations in the ATP7B gene, which encodes a copper-transporting P-type ATPase 1. Some key features of Wilson's disease include liver disease and cirrhosis, neuropsychiatric disturbances, Kayser–Fleischer rings in Desçemet’s membrane of the cornea, and acute episodes of hemolysis often in association with acute liver failure. The development of Wilson’s disease is due to the accumulation of copper in affected tissues, and it is recognized to be more common than previously thought, with a gene frequency of 1 in 90–150 1. Some important points to consider are:
- The ATP7B gene mutation shows specific variants that are more common in certain populations, but the provided evidence does not specify the prevalence in the Chinese population.
- More than 500 distinct mutations have been described in the Wilson gene, from which 380 have a confirmed role in the pathogenesis of the disease 1.
- Early diagnosis is crucial as treatment with copper chelating agents can effectively manage the condition and prevent serious complications such as liver failure and neurological damage. The provided evidence does not provide a clear estimate of the prevalence of Wilson's disease in the Chinese population, but it does suggest that the disease is found worldwide and may be more common than previously thought 1.
From the Research
Prevalence of Wilson's Disease in Chinese Population
- The prevalence of Wilson's disease in China is higher than in Western countries 2.
- A study in the South Chinese Han population found the incidence and prevalence of Wilson's disease to be approximately 1.96/100,000 and 5.87/100,000 respectively 3.
- In Hong Kong, the average annual incidence rate was 1.44 per million person-years, while the prevalence was 17.93 per million 4.
- The Chinese Han population has a higher average prevalence of Wilson's disease than the populations of the United States or Europe 3.
Geographic Variations and Genetic Factors
- Certain features of Wilson's disease in Asia, including China, have been found to be different from those in other continents 5.
- There is a tight linkage between Wilson's disease and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13 in Chinese patients 5.
- The ATP7B gene is the causative gene for Wilson's disease, and disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme, leading to copper deposition in multiple organs 2.
Clinical Manifestations and Diagnosis
- The high proportion of patients with hepatic presentation accounts for early onset of Wilson's disease in Chinese series 5.
- Skeletal involvement, leg hyperpigmentation, dark complexion, amenorrhea, epileptic seizures, and cerebral white matter degeneration are relatively more common among Wilson's disease patients in Asia, including China 5.
- Genetic diagnosis plays an important role in the diagnosis of Wilson's disease, and has gradually become a routine test in China 2.