Minimal Criteria to Screen for Wilson Disease: A Delphi Consensus in the United States

The objective was to develop consensus on minimal screening criteria for Wilson disease (WD) diagnosis in US gastroenterology and neurology settings for implementation in clinical practice to support the timely diagnosis of WD.

A modified Delphi panel with three rounds was conducted. The first round survey was developed with input from a steering committee of four clinical experts in WD who set the analysis rules (consensus: ≥ 80%). Other US gastroenterologists/hepatologists or neurologists with experience treating WD were recruited using purposive sampling, and 32 were invited to participate.

Eleven panelists completed the three rounds. Consensus was reached for 94/126 (74.6%) statements. All panelists agreed that hepatomegaly, splenomegaly, or stigmata of liver disease are suggestive of WD in patients with a neuropsychiatric manifestation; a neurologic exam, 24-h urine copper, ceruloplasmin, and Kayser-Fleischer (KF) ring examination should be performed; and liver biopsy and liver copper determination can be a useful final stage to confirm WD diagnosis. Panelists agreed that noninvasive testing should be performed prior to invasive testing and that the absence of KF rings does not exclude a diagnosis of WD. Panelists agreed that it is important to collaborate in a multidisciplinary team.

This study identified minimal criteria to raise suspicion of WD, minimal tests to confirm or rule out a WD diagnosis, and areas with poor consensus to be explored in future research. These results can complement clinical practice guidance and support cross-specialty collaboration.