ATP7B Peptide Analysis in Wilson’s Disease

Direct measurement of ATP7B peptides concentration can help identify patients with Wilson’s disease.

Both clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson’s disease. 

In this issue of Gastroenterology, Collins and Yi et al examined the role of ATP7B peptide concentration in the diagnosis of Wilson’s disease (Figure). 

A total of 264 blood samples were collected from biorepositories at 5 academic centers. 

Genetically or clinically confirmed patients with a Leipzig score over 3 (n ¼ 216) and carriers among family members (n ¼ 48) were included. 

Two ATP7B peptides were measured by immunoaffinity enrichment mass spectrometry. 

The ATP7B 887 sequence had a sensitivity of 91% and a specificity of 98% for Wilson’s disease. 

The ATP7B 1056 sequence had similar performance. The ATP7B peptide was deficient among 92% of patients with Wilson’s disease, 91% of genetically confirmed patients, 94% of genetically ambiguous patients, and 88% of patients with normal circulating ceruloplasmin. 

Although further confirmation studies are needed, this  study shows the potential usefulness

of ATP7B peptide quantification in the diagnosis of Wilson’s disease.​​