Although abnormal copper accumulation begins at birth, the symptoms of Wilson Disease may not become apparent until late childhood or adolescence, manifesting in the following ways:
Liver problems: An estimated 40% of Wilson Disease patients present clinically with liver disease. In children, liver disease is the most common presenting feature occurring at an average age of 10-13 years. Symptoms may include abdominal pain, jaundice, acute hepatitis, cirrhosis and fulminant hepatic failure.
Neurological problems: About 60% of Wilson Disease patients present with neurological disease specifically a movement disorder. Symptoms such as tremors, muscle spasms, an unsteady walk and speech problems commonly develop around age 15-30 and it may occur without liver disease.
Behavioural or Psychiatric problems: Children with the disease are sometimes misdiagnosed as having behavioural problems because they behave erratically or perform poorly in school. Psychiatric disturbances such as depression and compulsive and antisocial behaviours are present in some patients.
Eye, kidney and bone problems: Kayser-Fleischer (K-F) rings represent deposition of copper in the Descemet’s membrane of the cornea, and are present in almost all symptomatic patients with neurological manifestations and fulminant hepatic failure. Wilson's Disease can also interfere with the kidneys' filtering function, lead to premature osteoporosis, repeated miscarriages and infertility in women.
Screening and diagnosis
Diagnosing Wilson's Disease can be challenging because:
- no single test can diagnose Wilson’s Disease by itself
- symptoms of Wilson’s Disease are often indistinguishable from those of hepatitis, alcoholic cirrhosis and other chronic liver diseases
- many symptoms may evolve over time, rather than appearing all at once.
Clinical findings and biochemical testing are therefore necessary to establish diagnosis as listed in the table below
| Test | Symptomatic affected patients | Reference value |
|---|---|---|
| Serum Ceruloplasmin level | <20mg/dL | 20-45mg/dL |
| Serum Copper level | <0.75μg/mL | 0.75-1.45μg/mL |
| 24hr Urinary Copper level | >100μg/24-hour specimen | 15-60μg/24-hour specimen |
| Liver tissue copper level | >250μg/g of dry tissue weight | 10-35μg/g of dry tissue weight |
| Slit-Lamp Ophthalmic observation | Kayser-Fleischer rings present | Normal |
| Cerebral Imaging (MRI) | Abnormal | Normal |
| Mutation Analysis | Two Mutation | No mutation |