Wilson disease

Dr Jeremy Jones et al.

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.

Clinical presentation is non-specific and varied 5,11,13:

  • weakening of hands and dysarthria are often the earliest symptoms 5
  • dystonia
  • pseudo-parkinsonian and cerebellar symptoms
  • psychiatric symptoms
  • liver disease (more so in children and young adults)

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

It is a disorder that results from abnormal caeruloplasmin metabolism; a result of a variety of mutations in the ATP7B gene. Total body copper is elevated with deposition and resultant damage to a variety of organs, e.g. liver and brain.

Three pathways affected mostly:

Markers
  • 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 7.

It was initially described by Kinnier Wilson in 1912 10 as "progressive lenticular degeneration".

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Article information

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

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Cases and figures

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    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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