An epidemiological study of Wilson's disease in the Republic of Ireland.

Abstract

In a population based study of the prevalence of Wilson's disease in the Republic of Ireland from 1970-89, 26 definite and probable cases were ascertained. The adjusted birth incidence rate was 17-0 per million live births (95% (confidence interval 9*9 to 27.2)) for the 20 year period 1950-69. The gene frequency was 0-41% (95% (confidence interval 0-31% to 0-52%) indicating that one in 122 of the population was a gene carrier. Allowing for a maximal degree of consanguinity, the gene frequency is reduced to 0-36% and the proportion of heterozygotes to one in 139 of the population. The consistency of the adjusted birth incidence rates over the decades 1950-59 and 1960-69 suggests a high degree of ascertainment of diagnosed cases of Wilson's disease.

Epidemiology, diagnosis, and treatment of Wilson's disease

“…They identified 21 patients with WD in a population 5,090,700, for a prevalence of 4/1,000,000. In 1993, Reilly et al used a similar methodological approach to determine the prevalence of WD in the Republic of Ireland, and they identified 26 cases over a 19-year period (15). Patients in 5 of those cases died before being formally diagnosed.…”

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

“…On a population based approach, the incidence of WD was estimated to be at least 1:30,000-50,000 (Ireland: 17/10 6 live births, former East-Germany: 29 [Reilly et al 1993;Bachmann et al 1991]) with a gene frequency of 1:90 to 1:150. These estimations were mostly based on adolescent or adults presenting with neurologic symptoms.…”

Huntington's Disease and Related Disorders

“…It may be confused with HD if the initial symptoms are neurological, although chorea is not a common neurological manifestation of Wilson's disease. Despite its relatively low prevalence, estimated at 17 cases per million of the population [85], it is an important disorder to consider in patients with unexplained movements and behavioral change, because, unlike the other disorders reviewed here, symptoms can be arrested and even reversed with early treatment. Inheritance of Wilson's disease is in an autosomal recessive pattern, and it is caused by mutations of the gene ATP7B on chromosome 13q14.3.…”