Wilson's disease: causes, symptoms, diagnosis and treatment
Wilson's disease is a serious but treatable condition. Measuring only ceruloplasmin is not enough for a diagnosis; it is important to also test free copper and REC for a reliable diagnosis.
Want to know if you are at increased risk? Then check out the tests available at Bloedwaardentest.nl!
Wilson's disease is a rare, inherited metabolic disorder in which copper accumulates in the body. This can cause serious damage to the liver, brain and other organs. Timely diagnosis is crucial because the disease is easily treatable with medication and dietary measures. In this blog, learn more about the causes, symptoms, diagnosis and treatment options for Wilson's disease.
What is Wilson's disease?
Wilson disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene on chromosome 13. This gene regulates the excretion of copper through the bile and the incorporation of copper into ceruloplasmin, a transport protein for copper. As a result of this genetic mutation, the body cannot drain copper properly, causing it to accumulate in the liver and other organs, such as the brain.
The first symptoms usually appear between ages 5 and 45, with a peak between ages 13 and 24. In younger patients, symptoms often begin with liver problems, while neurological and psychiatric symptoms also appear in adolescents and adults.
What symptoms do you get from Wilson's disease?
Symptoms vary from patient to patient and can affect the liver as well as the nervous system and psyche:
Liver complaints (especially in younger patients)
- Fatigue and abdominal pain
- Jaundice (yellow discoloration of skin and eyes)
- Liver cirrhosis and liver failure
- Swollen abdomen due to fluid accumulation (ascites)
Neurological complaints (often in adolescents and adults)
- Trembling hands and muscle stiffness(Wing-Beating Tremor)
- Problems with speaking and swallowing
- Poor coordination and balance problems
- involuntary movements(dystonia)
Psychiatric complaints
- Anxiety, depression and mood swings
- Behavioral changes such as aggressiveness or impulsivity
- Reduced concentration and memory problems
A characteristic symptom is the Kayser-Fleischer ring, a copper deposit in the cornea that is visible with an eye examination.
How is Wilson's disease diagnosed?
Because symptoms are diverse, a combination of tests is needed for a correct diagnosis:
Genetic research
- The iGene DNA test can provide insight into genetic predisposition to Wilson's disease. This test is available through Bloedwaardentest.nl.
- Soon, information about this disease will also be included in the iGene app under personal characteristics.
Blood tests: why measuring ceruloplasmin alone is not enough
Ceruloplasmin is often measured in Wilson disease, but this does not give a complete picture. Ceruloplasmin may be elevated in inflammation, pregnancy, hormonal therapy or stress, while it may be decreased in other conditions such as malabsorption.
Therefore, it is important to measure free copper in the blood, which is a more reliable marker. Free copper is the copper that is not bound to ceruloplasmin and is therefore toxic to cells.
