Wilson disease

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

Epidemiology

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

Clinical presentation

Clinical presentation is non-specific and varied, typically manifesting by early adulthood :

  • weakening of hands and dysarthria are often the earliest symptoms
  • 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 .

Pathology

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:

Markers
  • serum ceruloplasmin: reduced
  • serum copper: reduced
  • free serum copper: increased
  • urinary copper: increased

Radiographic features

Please see individual articles:

Treatment and prognosis 

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

History and etymology

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