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Wilson's disease: A 2017 update.

Aurélia Poujois1, France Woimant1

  • 1Neurology Department, AP-HP, Lariboisière University Hospital, Paris, France; National Reference Centre for Wilson's Disease, AP-HP, Lariboisière University Hospital, Paris, France.

Clinics and Research in Hepatology and Gastroenterology
|April 8, 2018
PubMed
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Wilson's disease (WD) is a genetic disorder causing copper buildup. New diagnostic methods like relative exchangeable copper (REC) improve detection, while treatments and monitoring manage the condition effectively.

Area of Science:

  • Hepatology and Genetics
  • Biochemistry and Diagnostics
  • Clinical Management

Background:

  • Wilson's disease (WD) is a rare genetic disorder characterized by excessive copper accumulation in organs like the liver and brain.
  • Despite effective lifelong treatments transforming prognosis, clinical prevalence (1.2-2/100,000) is lower than genetic prevalence (~1/7000), suggesting incomplete penetrance or modifier genes.
  • WD presents a broad clinical spectrum, including mild forms and late-onset disease after age 40 in 6% of patients.

Purpose of the Study:

  • To review diagnostic advances, clinical presentation, and management strategies for Wilson's disease.
  • To highlight the utility of novel diagnostic markers and imaging techniques in assessing disease severity and progression.
  • To discuss current and future therapeutic approaches, including challenges and potential innovations.
Keywords:
ATP7BCopperExchangeable copperLiver transplantationWilson's disease

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Main Methods:

  • Review of diagnostic criteria, including traditional markers (low ceruloplasmin/serum copper, elevated urinary copper) and new assays like exchangeable copper (CuEXC).
  • Assessment of liver stiffness using FibroScan® as a measure of hepatic fibrosis.
  • Evaluation of treatment strategies, including chelation therapy (D-Penicillamine, Trientine), zinc salts, and liver transplantation, alongside monitoring protocols.

Main Results:

  • The relative exchangeable copper (REC) assay offers high sensitivity and specificity for WD diagnosis (REC >18.5%).
  • Elevated CuEXC levels (>2.08μmol/L) correlate with increased risk and severity of corneal, brain, and hepatic involvement.
  • FibroScan® thresholds (6.6kPa for moderate fibrosis, >8.4kPa for severe fibrosis) aid in assessing liver status, though further studies are needed for chronic therapy management.

Conclusions:

  • Recent advancements in diagnosing Wilson's disease, particularly using exchangeable copper assays, have significantly improved detection rates and severity assessment.
  • FibroScan® shows promise in non-invasively evaluating liver fibrosis in WD patients, complementing traditional monitoring.
  • Current management involves chelation therapy, maintenance, and regular follow-up, with ongoing research into new treatments like tetrathiomolybdate and gene therapy offers future hope.