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Hepatolenticular Degeneration

Basics

Hepatolenticular Degeneration, also called Wilson’s disease, is a genetic disorder characterized by excessive amounts of copper in the liver, central nervous system, kidneys, eyes, and other organs. Thus making the individual susceptible to a variety of effects including liver disease, abnormalities in kidney functioning, damage to the central nervous system, and a characteristic rusty-brown ring in the cornea of each eye known as Kayser- Flelscher ring. This condition affects about 1 out of 1 million people and if both parents carry the gene for Wilson’s then about 25% of their children will develop the disorder. It is most frequent in people under 40 years of age and in children the symptoms begin to be expressed by around 4 years of age.

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Symptoms

Symptoms usually appear between 6 and 20 years, but can begin as late as age 40 and include the following:

  • Blood tests reveal an increase in liver enzymes and symptoms of acute hepatitis, fulminant hepatitis, chronic hepatitis or cirrhosis. (Approx. 40% of all patients with Wilson’s disease have symptoms of liver disease).
  • Brown pigmentation in the cornea of the eye (Kayser-Fleischer ring) because of excessive copper accumulation.
  • A low blood count related to damage of red blood cells (Hemolytic anemia).
  • Difficulty with speech
  • Trembling
  • Writing problems
  • Unsteady walk.
  • Depression
  • Jaundice
  • Vomiting blood.
  • Enlargement of the abdomen.
  • Abnormal extremity posture (Dystonia).
  • Slow movements.
  • Weakness of the neck, face or arms.
  • Dementia.
  • Confusion or delirium.

Prevention

Genetic counseling may be recommended for persons with a family history of Wilson's disease

Causes

Wilson’s disease causes the body to absorb and retain excessive amounts of copper. It is caused when the liver of an individual does not release copper into bile, as it should. As the intestines absorb copper from the food, the metal builds up in the liver and injures the liver tissue. Gradually the capacity of the liver to retain copper exceeds its limit and the metal is released directly into the blood stream, carrying copper throughout the body. This accumulation leads to tissue damage and scarring, thereby decreasing the performance of the organs involved. Liver failure and damage to the central nervous system are the most predominant, and the most dangerous effects of this disorder.

Diagnosis

Diagnosis of this disease consists mostly of blood and urine tests

Dietary Guidelines

Most foods contain at least some copper, so it is not possible to avoid the metal completely. Foods high in copper, such as organ meats and oysters, should be eliminated from the diet. Some foods are relatively high in copper but are quite nutritious (e.g., nuts and legumes)—these foods should be eaten in moderation by people with Wilson’s disease. Grains contain significant amounts of copper but are important components of a healthful diet and dietary restriction may be neither wise nor necessary, particularly if zinc is supplemented.

Home Care Suggestions

Excess copper intake can also result from copper water pipes and cooking utensils, some of the new dental amalgams, pesticides and other chemicals, copper IUDs, birth control pills and other oestrogen medications.

Mind/Body Considerations

As with all diseases it is best to stay tension free and let the treatments take their course because a tension free mind and body can recover much more quickly.

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