Wilson’s disease, also called hepatolenticular degeneration, is a rare disorder caused by copper buildup in the brain, liver, and cornea.

1 in 30,000 people have this condition, and 1 in 90 are carriers. Consanguineous marriages increase the incidence of Wilson disease in several populations. The prevalence is the same for both men and women. It usually appears between 4 and 40 years old, but it has been found in 3-year-olds and 70-year-olds.

Wilson’s disease is autosomal recessive; therefore, a child must inherit one defective gene from each parent to develop it. Even if an individual only gets one mutated gene, he can still pass it on to his children without showing any signs and symptoms.

The manifestations of the disease are different in different areas of the body. The following are examples:

• Lethargy, poor appetite, or abdominal pain
• The skin and the whites of the eyes turn yellow (jaundice)
• Discoloration of the eyes–turning golden brown (Kayser-Fleischer rings)
• Swelling of the feet or the abdomen due to fluid retention
• Difficulties with speech, swallowing, or motor control
• Involuntary muscular contractions or rigidity

In blood tests, the following will be looked for:

• Copper. It is carried through the blood by a protein called ceruloplasmin. Low levels of ceruloplasmin are often found in people with Wilson disease; people with Wilson disease may have either high or low copper levels in their blood;
• Alanine transaminase (ALT) and aspartate transaminase (AST). ALT and AST are enzymes in the liver that rise when the liver is damaged;
• Reb blood cell count. Those with Wilson disease may have abnormally low levels of red blood cells (anemia).

If other tests don’t confirm or rule out a diagnosis of Wilson disease, a doctor may order a blood test to look for the genetic change that causes it.

Treatment

Copper chelation therapy with penicillamine and trientine is the gold standard treatment for Wilson’s disease.

Patients with recurrent variceal bleeding and liver cirrhosis may be candidates for a Transjugular intrahepatic portosystemic shunt (TIPS). 

Drugs like levodopa, GABA antagonists like baclofen, and anticholinergics like trihexyphenidyl can help with rigidity, spasticity, and other parkinsonian symptoms.

Mushrooms, chocolate, almonds, dried fruit, liver, and shellfish should all be avoided as part of a low-copper diet.

When the disease affects balance and motion, physical and occupational therapy can help.

 If a person has a history of Wilson disease in the family, he should discuss genetic testing with his doctor to determine his risk of developing the disease or passing it on to future children.

Patients with Wilson’s disease are often advised to reduce their copper intake. If the home’s plumbing system is made of copper, it is highly advised to check the copper content of the tap water. Also, multivitamins that include copper should be avoided. Foods that should be avoided due to their high content of copper are liver, shellfish, mushrooms, nuts, and chocolates. 

References

Chaudhry HS, Anilkumar AC. Wilson Disease. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441990/

Mayo Clinic (2022). Wilson’s disease. Retrieved December 23, 2022, from https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256