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 . 1 in 90 individuals are a heterozygous carrier .
Clinical presentation is non-specific and varied, typically manifesting by early adulthood :
- weakening of hands and dysarthria are often the earliest symptoms
- 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 .
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:
- dentatorubrothalamic tract
- pontocerebellar tract
- corticospinal tract
- serum ceruloplasmin: reduced
- serum copper: reduced
- free serum copper: increased
- urinary copper: increased
Please see individual articles:
- Wilson disease: hepatobiliary manifestations
- Wilson disease: CNS manifestations
- Wilson disease: musculoskeletal manifestations
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 .