title: Whom and how to screen for Wilson disease.
abstract: Wilson disease is a genetic disorder of hepatic copper excretion leading to copper accumulation in various tissues. The disease expression is highly variable, ranging from totally asymptomatic subjects to patients with severe liver disease or movement disorders. Thus, it is difficult to define in which patient Wilson disease has to be considered as diagnosis. The suspicion should be high in patients presenting with extrapyramidal disorders or with liver diseases or of unknown origin. For diagnosis, in many patients a combination of tests reflecting disturbed copper metabolism may be needed. Not a single test is per se specific and, thus, a range of tests has to be applied (presence or absence of Kayser-Fleischer rings or neurologic symptoms, serum ceruloplasmin, liver copper content, urinary copper excretion, mutation analysis; rated -1 to 4 depending on the test) and clinical symptoms. A diagnostic sum score of ≥ 4 confirms the diagnosis.
authors.affiliation: Department of Gastroenterology and Hepatology, Internal Medicine III, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria +43 140 400 4945 +43 140 400 4735 peter.ferenci@meduniwien.ac.at.
authors.forename: Peter
authors.initials: P
authors.lastname: Ferenci
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000652:urine; D001774:Blood Chemical Analysis; D003955:Diagnostic Tests, Routine / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D018579:Patient Selection; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D016482:Urinalysis
chemical_list: D015415:Biomarkers
keywords: Kayser–Fleischer rings; Wilson disease; ceruloplasmin; genetics; hepatic copper content