Wilson’s Disease is a rare disorder that causes excess copper to build-up in the liver and other vital organs in the body. Copper is essential to the development of healthy bones and nerves as well as a key player in the creation of collagen and the pigment that protects our skin from damage called melanin. Too much copper, however, is poisonous.
Typically, when minerals such as copper are absorbed into our bodies through the food we eat, the excess copper gets filtered out by the liver into bile. Bile is a fluid that is made by the liver the and helps to carry waste out of the body through the large intestine. Wilson’s diseases disrupts this waste extraction process causing copper deposits to develop in the liver, brains, eyes, and other vital organs of the body. Over time, this copper build-up causes our organs to degenerate, damaging them irreparably.
Wilson’s disease is a genetic disorder that is passed down to offspring from their parents. But just because one parent carries the gene, does not mean that the child will necessarily have the disease. Wilson’s disease is caused by an autosomal recessive mutation, which means that for the disease to become active in the child, the child must inherit one mutated gene from each of their parents. As a result, if one parent has the disease and one does not, it is possible for the child to inherit only the one mutated gene, from a single infected parent, thus becoming a carrier. A carrier may carry the gene mutation but not develop the symptoms of the disease.
The symptoms of Wilson’s disease typically manifest between the ages of 12 and 23, although new research has discovered that signs can develop as early as three years of age and lay dormant until as late as 75, making this disorder somewhat unpredictable. Typically, symptoms will affect the liver, the central nervous system, or both, and patients may also develop problems with mental health. There are several signs that may indicate the disorder including weakness, fatigue, loss of appetite, nausea, vomiting, weight loss, spider veins near the surface of the skin, muscle cramps, itching, or a swelling in the legs, feet, ankles or hands better known as edema. Signs of a compromised central nervous system may include symptoms common to other movement disorders such as tremors, muscle stiffness, or problems with speech, swallowing, or coordination. Mental health related symptoms may also manifest such as depression, anxiety, or psychosis. Arthritis, osteoporosis, anemia, and low platelet, or white blood cell count, may also be an indication.
Because the symptoms of Wilson’s disease do not often occur together and most are also commonly found in other movement disorders and conditions, Wilson’s can be very difficult to diagnose. But the most telling and unique symptom of Wilson’s disease is Kayser-Fleischer rings, which are caused by the build-up of copper in the eye. Kayser-Fleischer rings are identified by a distinct rusty brown ring of color that collects around the edge of the iris. It is easily seen in people with light colored eyes such as blue, green or grey, but can quickly be diagnosed during a routine eye check-up.
There is no cure for Wilson’s disease, but an early diagnosis is imperative to ensuring that you not only receive the care and treatment you will need to manage the amounts of copper in your blood, but also to avoid irreparable damage to your organs. Treatment for Wilson’s disease is usually conducted in stages. In the first instance, medications that force the release of copper from the organs and into the bloodstream are prescribed. These drugs allow the excess copper in the blood to be filtered out by the kidneys and passed out of the body through urination. Treatment then focuses on preventing any more copper build up through diet constrictions and a regime of other prescription medications. In cases where the liver has already been severely damaged, a liver transplant may be required.
Treating Wilson’s disease requires a life -long commitment to health management, and our team of neurology experts and MDPDS knows this. Our experts are at the forefront of treatment and care, designing programs and management regimens that will help to ensure that your symptoms are kept in check and potential side effects from prescription medications are minimized.