Wilson’s disease is an inherited genetic disorder that causes an excess of copper to build up in the liver. The body obtains copper from food to develop nerves, bones, and the skin pigment melanin. However, excess copper is poisonous to the body. When excess copper exceeds the liver’s capacity, the excess flows into the bloodstream and affects vital organs.
Wilson’s disease causes illness when a person inherits two defective ATP7B genes (one from both parents). If one defective gene is inherited, that person will not become sick but may pass the gene on to children.
Wilson’s disease is rare. About 1 in 40,000 people develop the disease. If the disease is caught early and treated, patients can live in good health.
SYMPTOMS OF WILSON'S DISEASE
Symptoms of Wilson’s disease typically begin showing before a person reaches 30 years of age. The symptoms are similar to those of many other liver diseases, so Wilson’s disease is difficult to diagnose.
Symptoms can include:
- Fluid buildup in the legs or abdomen
- Bruising easily
- Difficulty swallowing
- Involuntary shaking
DIAGNOSING WILSON'S DISEASE
Symptoms often increase or change over time. Behavioral changes can also happen. The diagnosis will depend on both symptoms and laboratory tests.
Laboratory tests for Wilson’s disease include:
- Blood and urine tests to look for excess copper
- Eye exam – an ophthalmologist will check the eyes for Kayser-Fleischer rings using a microscope and high-intensity light
- Liver biopsy
- Genetic testing – a finger-prick blood test can identify the genetic mutations that causes Wilson’s disease
TREATMENT OPTIONS FOR WILSON'S DISEASE
Patients with Wilson’s disease have to monitor copper levels. Medical treatment is possible, but maintenance when symptoms improve will be essential for healthy living.
Medications can make the body’s organs release the excess copper so it can be filtered by the kidneys and secreted in urine.
Wilson’s disease diets should avoid high-copper foods like shellfish, nuts, and chocolate, as well as vitamins that contain copper. Zinc helps the body prevent the absorption of excess copper and is often used for long term treatment.
Patients with severe liver damage may need a liver transplant.