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Wilson's Disease

About Wilson's Disease

Wilson's disease is a rare genetic disorder that prevents the body from excreting excess copper. Copper is an essential nutrient in the body.

Why it is Problematic

Those affected with Wilson's disease are unable to rid the body of excess copper, causing undesirable and potentially dangerous consequences. Copper accumulation can result in brain and liver damage.

An overabundance of copper in the body is toxic and may attack the liver and the central nervous system. The liver is classically the first part of the body to be attacked by excess copper, causing hepatitis. When the storage capacity for copper has been exceeded, excess copper spills into the bloodstream. If not diagnosed quickly enough, copper poisoning may occur.

Causes and Risk Factors

Wilson's disease is a genetic disorder and is present at birth. People with Wilson's disease have a mutation on two copies (homozygous) of their ATP7B gene. Carriers of Wilson's disease have only one copy (heterozygous) of the mutation and do not express symptoms. Many people with Wilson's disease do not have a family history of the condition. If two parents are carriers of the mutation, there is a 1 in 4 chance that their child will have Wilson's disease.

Symptoms

As an inherited disorder, Wilson's disease is present at birth. Symptoms for the disease typically occur between the ages of 5 and 35. Wilson's disease is often mistaken for other conditions. Some symptoms include:

Clumsiness
Depression
Difficulty speaking,walking,swallowing
Drooling
Easy bruising
Fatigue
Shaking or uncontrolled movement
Joint pain
Loss of appetite
Nausea
Skin rash
Swelling in arms or legs
Jaundice (yellowing of the skin or whites of the eyes)
Rusty brown ring around cornea of the eye (Kayser-Fleischer rings)

Diagnosis

Diagnosis of Wilson's disease includes a physical examination with a slit lamp to check for Kayser-Fleischer rings, a 24-hour urine copper test, genetic testing to look for the presence of the ATP7B mutation, liver biopsy, and a histochemistry copper quantification.

Treatment and Prevention

Treatment can halt the progression of Wilson's disease and help control symptoms. The focus of treatment is to remove excess copper from the body. Treatment is a lifelong process and any delay or breaks in treatment can cause immediate damage.

Chelation therapy drugs are used to bind copper and aid in its urinary excretion.

Metallothionein- inducing drugs use zinc to block copper absorption in the intestinal tract. These medications deplete accumulated copper and prevent future accumulation. Zinc has a proven track record and minimal side effects.

Patients with Wilson's disease are advised to seek treatment from a specialist in Wilson's Disease.

Stopping treatment can result in death in as little as 3 months. Always be sure to take medication as directed. Wilson's disease is very treatable when the proper medications are taken correctly.

Incidence

About 1 in 40,000 people have Wilson's disease. Wilson's disease affects both men and women equally.

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