Geographic variations in Wilson's disease

J Neurol Sci. 1993 Jul;117(1-2):1-7. doi: 10.1016/0022-510x(93)90145-o.

Abstract

Certain features of Wilson's disease (WD) in Asia have been found to be different from those in other continents. The higher prevalence rate in Japan is presumably due to a higher consanguinity rate. In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13. The high proportion of patients with hepatic presentation accounts for early onset of WD in the Japanese and Chinese series. Skeletal involvement, leg hyperpigmentation, dark complexion, amenorrhea, epileptic seizures, and cerebral white matter degeneration are relatively more common among WD patients in Asia. Excessive copper in the liver appears to have a protective effect against hepatocellular carcinoma and type B hepatitis. Electrophysiological studies suggest widespread functional disturbances of the CNS in WD. Side-effects from penicillamine are rather frequent and often lead to interruption of the therapy. Trien is found to be effective without adverse reactions. Oral zinc therapy may be a suitable alternative for long-term management of WD patients in developing Asian countries.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Brain Diseases, Metabolic / etiology
  • Brain Diseases, Metabolic / physiopathology
  • Carcinoma, Hepatocellular / epidemiology
  • China / epidemiology
  • Comorbidity
  • Consanguinity
  • Copper / metabolism
  • Disease Susceptibility
  • Electroencephalography
  • Ethnicity / genetics
  • Europe / epidemiology
  • Female
  • Gene Frequency
  • Genes, Recessive
  • Hepatitis B / epidemiology
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / epidemiology*
  • Hepatolenticular Degeneration / ethnology
  • Hepatolenticular Degeneration / genetics
  • Humans
  • Incidence
  • India / epidemiology
  • Japan / epidemiology
  • Liver Neoplasms / epidemiology
  • Male
  • Penicillamine / therapeutic use
  • Phenotype
  • Pregnancy
  • Pregnancy Complications / drug therapy
  • Prevalence
  • Socioeconomic Factors

Substances

  • Copper
  • Penicillamine