Explaining Wilson's Disease (Hepatolenticular Degeneration)

Explaining Wilson's Disease (Hepatolenticular Degeneration)
Wilson's Disease (Hepatolenticular Degeneration) is a genetic disorder that is fatal

unless detected and treated before serious illness develops from copper poisoning.

Wilson's Disease affects one in thirty thousand people world wide. The genetic defect

causes excessive copper accumulation. Small amounts of copper are essential as vitamins.

Copper is present in most foods, and most people get much more than they need. Healthy

people excrete copper they don't need, but Wilson's Disease patients cannot.

The gene for Wilson's disease (ATP7B) was mapped to chromosome 13. The sequence of the

gene was found to be similar to sections of the gene defective in Menkes disease, another

disease caused by defects in copper transport.

The liver of a person who has Wilson's disease does not release copper into bile as it

should. Bile is a liquid produced by the liver that helps with digestion. As the

intestines absorb copper from food, the copper builds up in the liver and injures liver

tissue. Eventually, the damage causes the liver to release the copper directly into the

bloodstream, which carries the copper throughout the body. The copper buildup leads to

damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe

brain damage, liver failure, and death.

Symptoms usually appear between the ages of 6 and 20 years, but can begin as late as

age 40. The most characteristic sign is the Kayser-Fleischer ring--a rusty brown ring

around the cornea of the eye that can be seen only through an eye exam. Other signs depend

on whether the damage occurs in the liver, blood, central nervous system, urinary system,

or musculoskeletal system. Many signs would be detected only by a doctor, like swelling of

the liver and spleen; fluid buildup in the lining of the abdomen;

anemia; low platelet and white blood cell count in the blood; high levels of amino acids,

protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms

are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting

blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride,

drugs that help remove copper from tissue. Patients will also need to take vitamin B6 and

follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit,

liver, and shellfish. Taking extra zinc may be helpful in blocking the intestines'

absorption of copper.

Zinc and Vitamin C supplementation increases the excretion of copper. With the use of

oral binders of copper eg penicillamine, Vitamin B6, and multi mineral must be taken to

reduce side effects of this drug. Iron and zinc are also bound by this binder.

The newest FDA-approved drug is zinc acetate (Galzin). Zinc acts by blocking the

absorption of copper in the intestinal tract. This action both depletes accumulated copper

and prevents it reaccumulation. Zinc's effectiveness has been shown by 15 years of

considerable experience overseas. A major advantage of zinc therapy is its lack of side

effects.

The
nutrients mentioned above reflect the major nutritional supplements
that may help the condition. Please do remember however that
nutritional supplementation is an adjunct to medical treatment and in
no way replaces medical treatment.