A comprehensive literature review of Wilson Disease in Africa

Wilson Disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, which disrupts copper metabolism and leads to toxic accumulation in the liver and brain. Globally, its incidence is estimated at 1 in 30,000, though consanguinity can increase prevalence in certain regions. In Africa, WD remains underdiagnosed due to limited diagnostic capacity and awareness, with most reported cases concentrated in North Africa.

This narrative review synthesizes literature on WD epidemiology, diagnosis, and genetics in Africa, focusing on data from countries with published studies such as Morocco and Egypt. Information on clinical presentation, diagnostic criteria (Leipzig scoring, Kayser-Fleischer rings), and genetic profiles was compiled from peer-reviewed articles and case reports.

WD is a significant but often overlooked genetic disorder in Africa, where diagnostic challenges and low awareness contribute to underreporting. Available data, primarily from Northern Africa, show a high frequency of consanguinity-related cases and distinct ATP7B mutation patterns. Improved clinical recognition, accessible diagnostic tools, and genetic counseling are essential to enhance early detection and lifelong management of WD across the continent.