Wilson disease

Last revised by Dr Mostafa El-Feky on 29 Mar 2022

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 - but non-pathognomonic - feature 11. Occasionally sunflower cataracts may also be present 22.

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 are 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 is focused on chelation of the copper, and chelating agents used include zinc sulfate, trientine dihydrochloride, ammonium tetrathiomolybdate and penicillamine 7,18,22.

It was initially described by Samuel Alexander Kinnier Wilson (1878-1937), a brilliant American-born British neurologist, in 1912 as "progressive lenticular degeneration". Wilson also coined the terms extrapyramidal system and syndrome 10,20. Interestingly, Kayser-Fleischer rings were initially described a decade earlier by German physicians Bernhard Kayser (1869-1954) and Bruno Fleischer (1848-1904) in 1902 and 1903 respectively 16,17,21.

ADVERTISEMENT: Supporters see fewer/no ads

Cases and figures

  • Figure 1: Kayser-Fleischer rings
    Drag here to reorder.
  • Case 1
    Drag here to reorder.
  • Case 2: on T2
    Drag here to reorder.
  • Case 2: on FLAIR
    Drag here to reorder.
  • Case 3: with echogenic liver
    Drag here to reorder.