Wilson's Disease

A look at the disease;its symptoms,tests,treatment , and prognosis.

Wilson’s Disease was named after the neurologist Alexander Kinnear Wilson, who first described the disease. Wilson’s disease is also called hepatolenticular degeneration, is a rare inherited disease where too much copper is retained in the liver and damages it and other important organs in the body. ( A parent may not have Wilson’s, and therefore be unaware that they are a carrier.)

Copper 's Importance In the Body

Copper is an essential element in the body for respiration, hormones, attacking free radicals,brain function,heart health, the immune system, just to name a few.

Normally, when copper is in the liver it passes with bile out of the liver. In those affected with Wilson’s disease there is an accumulation of copper that is not expelled with the bile.

Who Is Affected?

About one in every 40,000 people are diagnosed with the disorder. Wilson’s disease may be diagnosed in early childhood, or if symptoms appear later ,in adulthood. The average age for a diagnosis is at about 21. However,principally because of misdiagnosis, there are reports of patients over seventy years old that were discovered to be victims of the disease.

What Are the Symptoms?

Symptoms may be misdiagnosed at first, because symptoms such as tremors, clumsiness, swallowing issues, and slurred speech are common in other diseases. There is, however ,a distinctive somewhat rusty golden- brown ring surrounding the cornea in cases where the brain is affected, and in a large percent of other involved organs.

Doctors can check for a characteristic ring around the cornea.Credit: flickr CC/benimoto

These rings are called Kayser-Fleischer Rings. The rings are caused by deposits of surplus copper .

Even without liver disease, Wilson’s Disease may affect the victim neurologically with about half of all patients being affected by the excess copper in the brain. Approximately 1/3 of those affected with the disease will also experience personality changes, sometimes extremely uncharacteristic, even bizarre.

What Is the Prognosis?

Early detection is crucial to a good outcome. If diagnosed too late, the patient may suffer liver failure or cirrhosis of the liver, possibly resulting in the urgent need for a liver transplant. Some cases have resulted in death, as the discovery of the disorder came too late.

How Is Wilson’s Disease Detected?

When presented with symptoms indicating Wilson’s Disease, the doctor may order an MRI, urine tests to detect copper or certain proteins, or a liver biopsy to discover the amount of copper in the liver. Other tests not listed here may also be used to help with the diagnosis and method of treatment.

 

The doctor may orderan MRI and other tests.Credit: flicker creative commons

How Is Wilson’s Disease Treated?

Many people lead a normal life after being diagnosed and adhering to the treatment prescribed. Continued lifelong monitoring and evaluations are necessary. The

Wilson’s Disease Association International advises a treatment plan designed to avoid a serious accumulation of copper in the body. These measures include avoiding foods with high copper content, eliminating copper water pipes, and avoiding copper cooking utensils and cookware.

Dosages for treatment are usually Penicillamine , Treintine, or zinc acetate. Penicillamine may present serious side effects neurologically, cause joint pain, lupus, and adversely affect with the way blood clots. Treintine has less side effects. Zinc acetate is another treatment to eliminate the excess copper . The zinc binds the copper and blocks absorption until it is safely released a few days later. Unfortunately zinc acetate acts more slowly, and will most likely take many months to eradicate the surplus copper. The good news is that there is no toxicity or serious side effects from the zinc. Consistent and careful monitoring, evaluation of dosages, and patient compliance is essential regardless of your course of therapy.

Wilson’s Disease Support and Information

For more information and support, you might want to contact the WDA, or visit the website of the Wilson’s Disease Association.

1802 Brookside Drive

Wooster, Ohio 44691

888-264-1450

The Mayo Clinic, and the National Institute of Health have additional resources listed on their websites.

wda@sssnet.com or www.wilsonsdisease.com