Illuminating Wilson disease

By Dr Nicola Davies

March is Wilson disease awareness month – an autosomal recessive genetic disorder characterized by excess copper accumulation in the body.1 It is caused by a mutation in the ATP7B gene, with an estimated one in 90 people carrying the mutation.1

The ATP7B gene is crucial for the movement of excess copper from the liver to the intestines to be excreted from the body. Excess copper storage typically occurs in the liver, brain and corneas of the eyes, leading to complications of the affected organs. The prevalence of Wilson disease is approximately 1 in 30,000 to 50,000 individuals globally, with equal occurrences in males and females.1,2 Damage from the disease may begin as early as six years of age, however, symptoms may only appear in adolescence and early adulthood.1