Health TipsSteps in the Diagnosis of Wilson's Disease

Steps in the Diagnosis of Wilson’s Disease – A physical examination and thorough history are the first steps in the diagnosis of Wilson’s disease. A doctor may also order blood tests to check liver function and copper levels. Urine tests can also detect abnormal levels of copper in the blood. A slit-lamp eye examination may also be necessary to check for Kayser-Fleischer rings, which are brown patches on the iris caused by excess copper. Genetic testing may also be necessary for the diagnosis of Wilson’s disease.

Early Diagnosis Significantly Extends Life Expectancy

In order to develop Wilson’s disease, a person must inherit two copies of a defective gene from each parent. Children who do not inherit this gene do not develop the disease. Symptoms typically begin between the ages of 12 and 23 years. Those who go undiagnosed may live as long as 40 years or less, but early diagnosis can significantly extend life expectancy. Listed below are some symptoms of Wilson’s disease.

Treatment for Wilson’s disease includes zinc. This is given in the form of zinc salts, which block the digestive enzymes that break down copper. The copper is then eliminated from the body gradually. Zinc is typically given in maintenance therapy. While zinc does not appear to harm a pregnant woman’s baby, its use should not be stopped for the first year of pregnancy. In addition to zinc, doctors may also prescribe D-penicillamine, trientine, and trientine. Copper levels are routinely monitored in the blood and urine to monitor the effects of the treatment.

The most common neurological symptoms of Wilson’s disease include dysarthria, uncontrollable crying, swallowing difficulties, and irregular salivation. Neurological symptoms such as tremors and seizures may also occur. In addition to neurological symptoms, patients may develop psychiatric and nervous system complications. Some people with Wilson’s disease may experience clumsiness, speech problems, and even depression. In addition, they may develop liver and kidney damage.

The Genetic Cause of Wilson’s Disease Is Unknown But It Can Be Inherited

The genetic cause of Wilson’s disease is unknown, but it can be passed down through a child. A person affected by the disease must carry the mutated ATP7B gene to pass the mutation to their offspring. This is because of a genetic fault in the copper-transporting ATP7B gene, which controls the movement of copper in the body. As a result, excessive copper builds up in the liver, brain, and kidneys, which can lead to organ damage and death.

Too much copper in the liver cells (the hepatocytes) is harmful and leads to liver damage. Damage to brain tissue mainly occurs in an area called the lenticular nucleus. Hence, Wilson’s disease is sometimes also called hepatolenticular degeneration.

Characteristics of Wilson’s Disease Have a Kayser-Fleischer Ring

Many people with Wilson disease have a Kayser-Fleischer ring, which is a greenish, gold, or brownish ring around the edge. The buildup of copper in the eye causes the Kayser-Fleischer ring. A doctor can see this ring with a special eye.

While the cause of Wilson’s disease is unknown, it does appear to be an inherited disorder that causes excessive copper buildup in the liver and brain. Copper can also accumulate in other organs, such as the heart and nerves. This disease is extremely rare, affecting one in 30,000 people worldwide. It can cause liver failure, kidney failure, and neuropsychiatric symptoms. Although the disease isn’t life-threatening, it can cause serious neurological and mental damage, including death.


Mak, Chloe M., and Ching-Wan Lam. “Diagnosis of Wilson’s disease: a comprehensive review.” Critical reviews in clinical laboratory sciences 45.3 (2008): 263-290.

Da Costa, Claudia Martins, et al. “Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson’s disease.” Hepatology 15.4 (1992): 609-615.


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