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.
Wilson’s Disease is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child. Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on chromosome 13. The gene is called ATP7B.
Many cases of Wilson’s Disease occur due to spontaneous mutations in the gene. A significant number of others are simply transmitted from generation to generation. Most patients have no family history of Wilson’s Disease. Many signs can 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.
What are the causes of Wilson’s Disease?
The genetic defect causes excessive copper accumulation. Wilson’s Disease is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child .
Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on chromosome 13. The gene is called ATP7B.
Many cases of Wilson’s Disease occur due to spontaneous mutations in the gene. A significant number of others are simply transmitted from generation to generation. Most patients have no family history of Wilson’s Disease.
More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible.
This may help in finding symptom-free relatives so that they may be treated before they become ill or handicapped. Someday a genetic test may help in prenatal diagnosis. People with only one abnormal gene are called carriers. They do not become ill and should not be treated.
What are the signs and symptoms of Wilson’s Disease?
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.
Many signs can 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.
Patients may have jaundice, abdominal swelling, vomiting of blood and abdominal pain. They may have tremors, difficulty walking, talking and swallowing.
They may develop all degrees of mental illness including homicidal or suicidal behavior, depression and aggression.
Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages.
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.
In about half of Wilson’s Disease patients, the liver is the only affected organ. The physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson’s Disease hepatitis.
The diagnosis of Wilson’s Disease is made by relatively simple tests, which almost always make the diagnosis. The tests can diagnose the disease in both symptomatic patients and people who show not signs of the disease.
Wilson’s disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver. An eye exam would detect the Kayser-Fleischer ring.
Treatment
Wilson’s disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson’s disease can enjoy completely normal health.
Patients will also need to take vitamin B 6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.
The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion.