Diseases
wilson's disease
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
Symptoms
- fatigue, lack of appetite or abdominal pain
- a yellowing of the skin and the whites of the eye (jaundice)
- golden-brown eye discoloration (kayser-fleischer rings)
- fluid buildup in the legs or abdomen
- problems with speech, swallowing or physical coordination
Causes
- wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent.
Risk factors
- increased risk of wilson's disease if the parents or siblings have it.
Diagnosis
- blood and urine tests.
- eye exam.
- genetic testing
- removing a sample of liver tissue for testing (biopsy).
Medicines used
Frequently asked questions
What is wilson's disease?
Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
What are the symptoms of wilson's disease?
fatigue, lack of appetite or abdominal pain, a yellowing of the skin and the whites of the eye (jaundice), golden-brown eye discoloration (kayser-fleischer rings), fluid buildup in the legs or abdomen, problems with speech, swallowing or physical coordination
What causes wilson's disease?
wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent.
Which medicines are used for wilson's disease?
penicillamine, zinc
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