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Wilson's disease

Key sources
The following summarized guidelines for the evaluation and management of Wilson's disease are prepared by our editorial team based on guidelines from the European Association for the Study of the Liver (EASL 2023; 2017; 2012), the American Association for the Study of Liver Diseases (AASLD 2022), the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN 2018), the American Gastroenterological Association (AGA 2017), and the American College of Gastroenterology (ACG 2016).
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Guidelines

1.Screening and diagnosis

Indications for testing, symptomatic patients, AASLD: suspect and assess for WD in patients with any of the following:
liver abnormalities of uncertain cause; do not rule out WD solely based on age
ALF with non-immune hemolytic anemia, including acute intravascular hemolysis
unexplained liver disease associated with a neurological or psychiatric disorder; consider obtaining an assessment by a neurologist specializing in movement disorders
recurrent self-limited non-immune hemolysis
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  • Indications for testing (family relatives)

  • Diagnostic criteria

2.Classification and risk stratification

Prognostic scores: consider using prognostic scoring systems to help in determining the potential for successful medical therapy for WD. Consider applying such a score serially over time to improve accuracy.
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3.Diagnostic investigations

History and physical examination: recognize that WD at clinical presentation may involve organ systems besides the liver and nervous system, such as renal, musculoskeletal, cardiac, or endocrine systems.
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  • Liver function tests

  • CBC

  • Serum ceruloplasmin

  • 24-hour urinary copper excretion

  • Genetic testing

  • Slit-lamp examination

  • Brain imaging

4.Diagnostic procedures

Liver biopsy: as per AASLD 2022 guidelines, consider performing a liver biopsy to aid in the diagnosis of WD by identifying findings consistent with WD, allowing quantification of hepatic copper, and permitting disease staging/grading, as well as identifying an alternative or concurrent diagnosis of liver disease.
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5.Medical management

Chelating agents: as per AASLD 2022 guidelines, initiate lifelong medical therapy in all patients with newly diagnosed WD. Individualize timing of treatment in < 3 years old pediatric patients to the degree of organ damage.
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  • Zinc salts

  • Management of neurologic and psychiatric symptoms

6.Nonpharmacologic interventions

Dietary modifications
As per AASLD 2022 guidelines:
Advise avoiding intake of foods and water containing high concentrations of copper, especially during the first year of treatment in patients with WD. Consider offering supervision by a registered dietitian to avoid overly restrictive meal patterns or undue anxiety about diet.
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Offer dietary management including supplements formulated to meet dietary needs while avoiding excess copper intake in patients with WD unable to maintain adequate nutritional intake.
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7.Surgical interventions

Liver transplantation: as per AASLD 2022 guidelines, refer patients with ALF due to WD for immediate liver transplant evaluation.
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8.Specific circumstances

Pregnant patients: as per EASL 2023 guidelines, continue treatment with zinc, D-penicillamine, and trientine with dose reduction of chelators in the second and third trimesters in pregnant patients with WD.
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  • Patients with advanced liver disease

9.Follow-up and surveillance

Serial monitoring: as per AASLD 2022 guidelines, perform a physical examination regularly and obtain liver biochemistries, INR, CBC, and routine urinalysis (especially in patients on chelation therapy with D-penicillamine or trientine) at least twice per year for regular monitoring. Obtain CBC and urinalysis regularly in patients receiving chelation therapy, irrespective of how long they have been on treatment.
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  • Management of treatment failure

  • Surveillance for malignancy