Curbside Consultation of the Liver: 49 Clinical Questions

Mitchell L. Shiffman, MD

Question 21: What Is The Best Screening Test For Wilson’S Disease? (continued)

Opang Cheung, MD; Anastasios A. Mihas, MD, DMSc, FACP, FACG

Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism affecting approximately 1 in 30 000 in the Caucasian population. It is 4 times more common in women than in men. The specific mutations on disease gene ATP7B, a copper-transporting ATPase located on chromosome 13 at 13q14.3-q21.1, result in impaired incorporation of copper into ceruloplasmin and thereby decreased biliary excretion of copper. This eventually leads to a dramatic buildup of intracellular copper to toxic levels in the liver, brain, and other sites in the body. The diagnosis of WD, especially in…