Wilsons disease is a hereditary condition resulting from the body’s inability to remove copper from the liver during the digestive process. This rare and serious disease may affect other organs and the central nervous system.
Typically, bile, a liquid produced by the liver that aids in digestion, carries away excess copper from the liver. The livers of people with Wilsons disease don’t release copper into bile, as they should. The resulting buildup of copper in the liver injures the tissue, eventually damaging the organ to the point it releases copper directly into the bloodstream. Once in the bloodstream, the copper travels throughout the body where it may damage the brain, eyes, kidney and central nervous system.
Left untreated, this liver condition leads to cirrhosis, an irreversible scarring of the liver that seriously disrupts its normal functioning.
Wilson’s Disease Symptoms
Signs and symptoms usually appear between the ages of 6 and 20, but they can appear as late as age 40. The signs and symptoms include:
- Brown, ring-shaped pigmentation (Kayser-Fleischer ring) in the transparent surface of the eye (cornea) that usually can be seen only during an eye exam
- Yellowing of the skin and eyes (jaundice)
- Vomiting blood
- Speech and language problems
- Tremors in the arms and hands
- Rigid muscles
- Enlargement of the liver and spleen
- Liver tenderness
- Fluid buildup in the abdomen (ascites)
- Liver disease (hepatitis and cirrhosis)
- Anemia
- Low platelet and white blood cell count in the blood
- High levels of amino acids, protein, uric acid and phosphate in the urine
- Softening of the bones
Causes
An abnormal gene inherited as a recessive trait causes Wilsons disease. For people to exhibit signs and symptoms of the disease, they must inherit two copies of the gene, one from their mother and one from their father. Children won’t develop signs and symptoms of the disease if they inherit the gene from only one parent. Instead, they become carriers of the disease, meaning they can pass on a copy of the mutated gene to their offspring. Siblings of people with diagnosed Wilson’s disease have a one-in-four chance of carrying the same gene pattern and should be tested.
Treatment
Treatment usually continues for life and involves taking medications that help remove the deposited copper from tissues. These copper-removing medications include penicillamine (Cuprimine, Depen) and trientine (Syprine). Sometimes taking zinc supplements will help block copper absorption by the intestines.
Having this disease means you’ll also need to follow a low-copper diet. That means avoiding certain foods including nuts, chocolate, dried fruit, liver, shellfish and mushrooms.
With early diagnosis and proper treatment, the prognosis is generally good.
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