Sellner, H. Ascher, The Exceptional Parent
Wilson's disease is a rare genetic disorder that affects approximately 1 in 30,000 people worldwide, regardless of race or nationality. While small amounts of copper are essential to good health, Wilson's disease is characterized by excess storage of copper in the body tissues. In normal circumstances, the liver releases excess copper into the bile. However, individuals with Wilson's disease lack the necessary protein in the liver that enables it to bind the copper and excrete it effectively. As a result, copper accumulates in the liver, which leads to liver damage. Over time, the damage causes the liver to release the copper into the bloodstream, which then carries the copper to other organs and tissues. This excess copper leads to damage of the brain, eyes, and kidneys, resulting in severe neurological and psychiatric symptoms as well as physical disabilities. Left untreated, Wilson's disease can be fatal. However, with proper diagnosis and early, lifelong treatment, individuals with the disease can experience a healthy life and normal life expectancy.
Who is at risk for Wilson's disease?
Wilson's disease is transmitted as an autosomal recessive disease, which means that both parents must carry the defective ATP7B gene. More than 30 different mutations currently are identified, thus making it difficult to devise a successful means of genetic screening. However, if the mutation in a particular family can be located, a genetic diagnosis may then be made. This diagnosis may help in locating symptom-free relatives who will benefit from early treatment. A child of parents with the defective gene has a 25 percent chance of developing Wilson's disease, as does his or her siblings. Since early treatment is important, family members should be tested immediately. The carrier frequency is about 1 in 90. While carriers may experience mild difficulties, their symptoms are rarely medically significant and for this reason, carriers should not be treated.
What are the symptoms that lead to a diagnosis?
Despite the genetic nature of the disease, pathological changes and clinical manifestations do not appear before the age of 3. The majority of individuals with Wilson's disease will show symptoms in their teens, twenties, or thirties, but some cases will not manifest until the forties or fifties. In addition, Wilson's disease is often undiagnosed or diagnosed in the later stages because it is not considered, or the tests that would show a diagnosis are not performed. Since the disease affects many different tissues and organs, it has a wide range of neurological, psychiatric, and physical symptoms. In about half of those individuals with Wilson's disease, the liver is the primary organ affected; therefore, they may often be misdiagnosed as having cirrhosis, chronic active hepatitis, or fulminant hepatitis. Copper accumulation in the brain can present itself in the form of psychiatric disorders such as depression or suicidal impulses, or in the form of neurological symptoms such as slurred speech, tremors, or difficulty in swallowing. The most widely recognized symptoms of Wilson's disease are: tremors or chorea; gait disturbance and balance disorders; stiffness or rigidity; abnormal reflexes or speech; drooling; difficulty swallowing; abnormal eye movements; psychiatric disorders; hemolytic anemia; liver disease or liver-function abnormalities; and symptoms resembling Parkinson's disease. However, the most characteristic indicator of Wilson's disease is the Kayser-Fleischer ring, which is a copper deposit in the membrane of the cornea of the eye that produces a rusty brown ring that can often be seen during an eye exam.
While the presence of the Kayser-Fleischer ring is diagnostic, it is not always present in all people with Wilson's disease. Therefore, diagnosis should be made through tests that measure the amount of copper in the blood, urine, and liver. The most accurate screening test is a 24-hour urine measurement of copper. …