Wilson’s Disease
Wilson’s disease causes excess copper to build up in the body, damaging vital organs including the brain and liver. According to the National Organization for Rare Disorders, Wilson’s disease affects approximately one in 30,000 to 40,000 people worldwide.
What Is Wilson’s Disease?
Copper is a trace element that serves useful purposes in the body. Normally, the body removes extra copper by releasing it into bile, a digestive fluid made in the liver.
Wilson’s disease, also called hepatolenticular degeneration, is a rare inherited genetic disorder that causes the liver to retain excess copper. As copper accumulates in the liver, scar tissue begins to form. Eventually, the damaged liver releases copper into the bloodstream, where it builds up in organs such as the brain, eyes and kidneys. If left untreated, Wilson’s disease can cause serious complications such as liver failure and cirrhosis. It can even be fatal.
Causes of Wilson’s Disease
Wilson’s disease is caused by a genetic mutation, specifically the ATP7B gene. Both parents must pass on a copy of the defective gene for Wilson’s disease to develop. Anyone who inherits just one copy of the gene is a carrier of the disease and could pass on the genetic defect to a child.
Signs and Symptoms of Wilson’s Disease
Though the genetic abnormality responsible for Wilson’s disease is present at birth, symptoms of Wilson’s disease may not begin to appear until an affected individual’s teens or early twenties. When symptoms do occur, they may be related to the liver, brain or eyes.
Liver disease symptoms include:
- abdominal swelling due to fluid accumulation
- easy bleeding and bruising
- esophageal varices, which are swollen veins in the esophagus that bleed
- fatigue
- itchy skin
- jaundice, yellowing of the skin and whites of the eyes
- swelling of the legs called edema
Brain-related symptoms include:
- clumsiness and other problems with physical coordination
- difficulties with speech or swallowing
- mental health problems such as anxiety, depression or psychosis
- stiff muscles
- tremors or involuntary muscle movements
The most common eye symptom is Kayser-Fleischer rings, which are gold, green or brown rings around the corneas, the colored part of the eye.
How Is Wilson’s Disease Diagnosed?
Wilson’s disease is diagnosed based on physical examinations and review of medical history and symptoms, as well as laboratory tests including:
- 24-hour urine collection test for copper
- blood tests for levels of ceruloplasmin, a protein in the blood that carries copper
- eye examination for Kayser-Fleischer rings
- liver function tests
- imaging tests such as computer tomography scan or magnetic resonance imaging
If other test results are inconclusive, additional tests may be needed such as:
- liver biopsy
- molecular genetic test for abnormal ATP7B gene
Treatments for Wilson’s Disease
Treatment for Wilson’s disease may involve a team of several types of doctors, including hepatologists (liver specialists), neurologists (brain and nervous system specialists) and nephrologists (kidney specialists) to treat any related health problems such as liver cirrhosis.
Excess copper accumulation is addressed with medications including:
- chelating agents, which remove copper from the body
- zinc, which prevents copper from being absorbed by the intestine
Though dietary restrictions alone are usually not enough to manage Wilson's disease, a low copper diet may be beneficial. Avoid high copper-content items such as:
- chocolate
- mushrooms
- multivitamins and other supplements that may contain copper
- nuts
- organ meats
- shellfish