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This summary is machine-generated.

Wilson's disease (WD), a genetic disorder of copper metabolism, may be more common in India than previously thought. Early diagnosis and treatment, particularly copper chelation, lead to significant recovery, especially in neurological cases.

Keywords:
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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • Wilson's disease (WD) is an inherited disorder affecting copper metabolism, primarily impacting the liver and brain.
  • It is treatable, with early diagnosis and management crucial for recovery.
  • Indian research has significantly contributed to understanding WD over the past 50 years.

Purpose of the Study:

  • To collate and analyze published Indian studies on Wilson's disease.
  • To provide a comprehensive perspective on WD prevalence, presentation, and management in India.
  • To highlight key findings from Indian contributions to WD research.

Main Methods:

  • Systematic collation of published Indian studies on WD from PubMed and Embase databases.
  • Analysis of case series to assess prevalence, clinical manifestations, genetic mutations, and diagnostic delays.
  • Review of therapeutic approaches and patient outcomes.

Main Results:

  • Wilson's disease may be more prevalent in India than previously estimated, with the p.C271X mutation being common.
  • Hepatic and neuropsychiatric manifestations are dominant, though osseomuscular symptoms were noted in earlier reports.
  • A significant male predominance, high rate of consanguinity, and diagnostic delays up to two years are observed.
  • Serum ceruloplasmin and urinary copper abnormalities are frequent; brain MRI is abnormal in most neurological cases.
  • Copper chelation therapy, especially D-penicillamine, is standard; hepatic WD has a higher mortality risk than neurological WD.

Conclusions:

  • Wilson's disease is a significant health concern in India, potentially underdiagnosed.
  • Prompt diagnosis and consistent copper chelation therapy are vital for favorable outcomes, with neurological WD showing high recovery rates.
  • Further research and awareness are needed to improve early detection and management of WD in the Indian population.