Wilson disease

Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism affecting multiple systems. 

Wilson disease is commonly found in Japan. It affects 1 in 30,000-40,000 individuals 12. 1 in 90 individuals are a heterozygous carrier 18.

Clinical presentation is non-specific and varied, typically manifesting by early adulthood 5,11,13,15:

  • weakening of hands and dysarthria are often the earliest symptoms 5
  • dystonia
  • pseudoparkinsonian and cerebellar symptoms
  • psychiatric symptoms
  • liver disease (tends to be seen in early-onset presentations)

Asymptomatic Kayser-Fleischer rings are usually seen in the cornea and are a characteristic feature 11.

It is a disorder that results from abnormal ceruloplasmin metabolism, as a result of a variety of mutations in the ATP7B gene. Total body copper is elevated that has toxic effects on hepatocytes with copper deposition and resulting damage to a variety of organs, e.g. liver and brain.

Three pathways affected mostly:

  • serum ceruloplasmin: reduced 13,14
  • serum copper: reduced 14
  • free serum copper: increased 14
  • urinary copper: increased 14

Please see individual articles:

Treatment options include chelation therapy which includes zinc, trientine, and penicillamine 7,18.

It was initially described by Samuel Alexander Kinnier Wilson, an American neurologist, in 1912 as "progressive lenticular degeneration" 10. Interestingly, Kayser-Fleischer rings were initially described a decade earlier by German physicians Bernhard Kayser and Bruno Fleischer in 1902 and 1903 respectively 16,17.

Article information

rID: 5380
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Wilson's disease
  • Wilsons disease
  • Wilson disease: general
  • Hepatolenticular degeneration

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Cases and figures

  • Figure 1: Kayser-Fleischer rings
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  • 3
    Case 1: hepatic involvement with cirrhosis
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  • Case 2: cerebral involvement T2
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  • Case 2: FLAIR
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  • Case 3
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