Evaluation of patients with suspected Wilson disease but no Kayser-Fleischer rings
Evaluation of patients with suspected Wilson disease but no Kayser-Fleischer rings
This algorithm summarizes an approach to evaluating for Wilson disease in patients with liver-related symptoms (eg, elevated aminotransferases, low alkaline phosphatase, hepatomegaly) but no Kayser-Fleischer rings. Wilson disease may be suspected because liver findings are unexplained and/or accompanied by neurologic or psychiatric symptoms. This algorithm is intended for use in conjunction with UpToDate content on the clinical features and diagnosis of Wilson disease.
* Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required to develop Wilson disease. Typically, one pathogenic variant is inherited from each parent. Most patients with Wilson disease are compound heterozygotes.
Adapted from: Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2022.
