Wilson's Disease

Hyperintensities in the bilateral basal ganglia and thalami shown by T2-weighted MRI of the brain


Wilson's disease is a rare inherited disorder that causes the body to absorb and retain excessive amounts of copper. The accumulation of copper can damage many organs and tissues. The copper usually deposits in the liver, brain, kidneys, and the eyes. The liver and central nervous system are most often affected and are the most dangerous. If left untreated the copper can accumulate to life-threatening levels and can be fatal. Several different tests are used when diagnosing Wilson's disease. CT and MRI scans are used when diagnosing Wilson's of the brain. Other tests are also done to measure the amount of copper in the blood, urine, and liver. Although the copper accumulation begins at birth, symptoms of the disorder appear later in life. The most characteristic symptom of Wilson's is the Kayser-Fleisher ring which is a rusty brown ring around the cornea of the eye. Up to one-third of people with WD have neurological signs and symptoms, such as tremors, seizures, drooling, difficulty speaking, loss of fine motor skills, repetitive movements, slowness in movements. WD also causes behavioral and psychological problems such as abrupt personality changes, depression and neurotic behaviors.

If WD is detected early a person can enjoy a normal life and live a normal lifespan. Wilson's disease does require lifelong treatment by taking copper-reducing medication and avoiding copper containing vitamin and mineral supplements, along with foods high in copper. Wilson's disease itself is rare, but as many as one in 100 people has one defective ATP7B gene. WD is inherited and is an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. Exports recommend that all children and siblings of people with Wilson's be tested for disease.

This disease is very interesting to me because my ex-husbands family has a long history of Wilson's some cases even fatal and my daughter and grandchildren have been tested for this disease and are still being tested periodically for symptoms.