Clinical and Translational Perspectives on Wilson Disease: Chapter 33 - Wilson Disease in China

Wilson disease (WD) was first reported in mainland China in 1932 and subsequently in the 1960s Hong Kong and Taiwan. It is generally believed that WD is more common in Chinese populations than the average worldwide prevalence of 1:30,000. WD has been reported among ethnic minorities in mainland China, but the exact incidence, prevalence, and mutation spectrum in groups other than the majority of Han Chinese were not clear. The p.R778L alteration is the most common mutation in East-Asian countries. In a representative study from Hefei of 1222 WD patients, aged 1 to 57 years old, the p.R778L allele was related to younger age of disease onset, lower levels of serum ceruloplasmin, and lower levels of serum copper. In contrast, p.T935M and p.R919G mutations were correlated with relatively higher levels of serum ceruloplasmin; p.R919G tended to be neurological WD. There are numerous reports treating WD with herbal or traditional Chinese medicine; however, in most cases, treatment was given in addition to Western medicine, and claimed effects were based on nonrandomized studies.