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Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.

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|March 27, 2025
PubMed
Summary

Wilson disease (WD), a genetic copper metabolism disorder, presents diverse symptoms and diagnostic challenges. This review focuses on WD diagnosis, treatment, and adherence strategies in Portugal.

Keywords:
AdherenceDiagnosisMonitoringTreatmentWilson disease

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Hepatology

Background:

  • Wilson disease (WD) is an inherited disorder of copper metabolism due to ATP7B gene mutations.
  • Toxic copper accumulation affects multiple organs, leading to varied clinical presentations including liver, neurological, and psychiatric issues.
  • Diagnosis is complex, often requiring biochemical tests, imaging, genetic analysis, and liver biopsy.

Purpose of the Study:

  • To review current diagnostic and treatment strategies for Wilson disease.
  • To highlight challenges in patient adherence and monitoring.
  • To propose interventions for improving adherence in the Portuguese context.

Main Methods:

  • Literature review of recent advancements in WD diagnosis and management.
  • Analysis of treatment options including chelating agents, zinc salts, and liver transplantation.
  • Exploration of strategies to enhance patient adherence and monitoring.

Main Results:

  • Effective WD management relies on timely diagnosis and consistent treatment adherence.
  • Chelating agents, zinc salts, and dietary modifications are primary treatments.
  • Liver transplantation is reserved for severe hepatic cases.

Conclusions:

  • Optimizing Wilson disease patient outcomes requires improved adherence and monitoring.
  • Establishing reference centers and specialized care could enhance management in Portugal.
  • Further interventions are needed to support long-term patient care and prevent disease progression.