Wilson’s disease also known as hepatolenticular degeneration is a rare genetic disorder in which a high level of copper builds in the body. Copper accumulates in the brain, liver, and other vital organs. The high levels of copper in the body’s vital organs can cause life-threatening or serious harm to the affected organs. It can damage, scar, and dysfunction the organs. Wilson’s disease affects about 1 in 30,000 people. The disorder was first described in 1912 by Dr. Samuel Wilson and was named after him.
Copper is a trace metal that is needed by the body in small amounts to remain healthy. In normal circumstances, excess copper is filtered out by the liver into the bile – a substance produced by the liver and is excreted out of the body through the gastrointestinal tract. Individuals who are afflicted with Wilson’s disease cannot release the excess copper from the liver at a normal rate. When the storage capacity for copper in the liver is exceeded, it can damage and scar the liver tissue. The excessive amounts of copper in the liver will spill over or is released in the bloodstream and travels to the other organs. It will then damage the vital organs such as brain, eyes, and kidneys.
The genetic defect for Wilson’s disease is already present at birth. Its symptoms start to develop between the ages of 4 and 20. The disease usually appears in people under the age of 40. Developing the symptoms during middle age is also possible. The signs and symptoms will depend on what part of the body or which organ is affected by the disease. In Wilson’s disease, the organs to be initially attacked by the disease are the liver, the central nervous system, or both.
The accumulation of copper in the liver may cause liver disease. The signs and symptoms that accompany chronic liver disease are the following: fatigue; fluid buildup in the legs or abdomen; swelling of the spleen or liver; jaundice; and tendency to bruise easily. Neurological symptoms will develop when the accumulation of copper is in the central nervous system. The symptoms include: behavioral changes; tremors or uncontrolled movements; muscle stiffness; and difficulty in physical coordination, swallowing, and speech. Other signs and symptoms are slower blood clotting; anemia; premature arthritis and osteoporosis; low platelet or white blood cell count; and high levels of amino acids, uric acid, carbohydrates, and protein in urine.
Wilson’s disease can be diagnosed through laboratory tests and physical examination. The laboratory tests to be undertaken will measure the amount of copper in the urine, blood, and liver tissue. Physical examination includes eye examination to check for Kayser-Fleischer rings in the eye. It is the golden-brown discoloring of the eye which is present in almost all patients with the disease. It is caused by excess deposits of copper in the eyes. Genetic testing may also help in diagnosing the disease. For those diagnosed with Wilson’s disease, the healthcare provider may recommend medication to reduce the amount of copper in the body. The doctor may prescribe penicillamine, trientine, or zinc to remove copper from the body.
