Wilson disease
Updates to Article Attributes
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 12. 1 in 90 individuals are a heterozygous carrier 18.
Clinical presentation
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.
Pathology
It is a disorder that results from abnormal caeruloplasmin metabolism, as a result of a variety of mutations in the ATP7B gene. Total body copper is elevated that causes poisonoushas toxic effects on the 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
Markers
- serum caeruloplasmin: reduced 13,14
- serum copper: reduced 14
- free serum copper: increased 14
- urinary copper: increased 14
Radiographic features
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 7,18.
History and etymology
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.
-</ul><p>Asymptomatic <a href="/articles/kayser-fleischer-rings-2">Kayser-Fleischer rings</a> are usually seen in the cornea and are a characteristic feature <sup>11</sup>.</p><h4>Pathology</h4><p>It is a disorder that results from abnormal caeruloplasmin metabolism, as a result of variety of mutations in the <em>ATP7B</em> gene. Total body copper is elevated that causes poisonous effects on the hepatocytes with copper deposition and resulting damage to a variety of organs, e.g. liver and brain.</p><p>Three pathways affected mostly:</p><ul>- +</ul><p>Asymptomatic <a href="/articles/kayser-fleischer-rings-2">Kayser-Fleischer rings</a> are usually seen in the cornea and are a characteristic feature <sup>11</sup>.</p><h4>Pathology</h4><p>It is a disorder that results from abnormal caeruloplasmin metabolism, as a result of a variety of mutations in the <em>ATP7B</em> 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.</p><p>Three pathways affected mostly:</p><ul>
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