Wilson's Disease: Causes, Symptoms & Treatment
~ by Jo Jordan
Rarely do signs and symptoms of Wilson's disease - a rare genetic disorder - appear before five or six years of age, and most often they present themselves between ten and thirty, generally in late adolescence. However, Wilson's disease symptoms sometimes do not show up until much later in life.
Kayser Fleischer rings are the most unique sign of Wilson’s disease. A distinctive, golden brown discoloration, these copper deposits appear in each eye as rings around the edge of the iris (the colored part of the eye) and at the outer margin of the cornea (the transparent membrane covering the eye).
Wilson’s disease attacks the central nervous system and/or the liver first, and may cause ongoing liver disease. Most people exhibit signs and symptoms of chronic liver disease, including
- A tendency to bruise easily
- Fluid buildup in the abdomen or legs
- Swelling of the liver or spleen
For one-third1 of Wilson’s patients, copper build-up in the central nervous system results in neurological problems, including
Other signs and symptoms include
- Abrupt personality changes and inappropriate behavior (including homicidal and suicidal behavior and depression)
- Muscle spasms and stiffness
- Problems with physical coordination, speech, swallowing, and/or drooling
- Tremors or uncontrolled movements
- Abdominal pain
- High levels of amino acids, carbohydrates, protein, and/or uric acid in the urine
- Kidney stones
- Low platelet or white blood cell count
- Menstrual irregularities, absent periods, infertility, and/or multiple miscarriages
- Premature arthritis and/or osteoporosis
- Slower blood clotting
- Vomiting blood
Defining wilson's disease
Wilson’s disease is a chronic disorder that prevents the elimination of excess copper from the body, resulting in a build-up of this mineral in the joints, brain, eyes, kidneys, liver, and other vital organs.
Small amounts of copper play an essential role in the development of healthy bones, collagen, nerves, and melanin (skin pigment). Since it is present in many foods, most people have more copper than they require. Normally, this mineral is absorbed from food, and the excess is excreted through bile. People with Wilson's disease, however, are unable to rid themselves of excess copper.
Also known as Wilson disease, Kinnier Wilson's disease, Wilson-Konovalov disease, Westphal's pseudosclerosis, Westphal-Strümpell disease, Westphal-Strümpell pseudosclerosis, and Westphal-Strümpell syndrome, Wilson’s disease is always fatal unless detected and treated before serious illness from copper poisoning develops.
Because Wilson’s disease is inherited, the excess copper begins to accumulate at birth, resulting in life threatening organ damage. The disorder shows up in various ways, but it can also remain silent for years. When diagnosed early, Wilson’s disease is treatable, and many people with the disease live normal, healthy lives.
Wilson’s disease causes and risk factors
Wilson’s disease is a bit less prevalent in females – who tend to present with hepatic failure; males are more likely to exhibit neurological symptoms.
Many foods contain copper. Because of a mutation of chromosome 13 – which affects ATP7B, the protein that helps transport copper into the bile and, eventually, out of the body – people who have Wilson’s disease cannot excrete copper from the liver properly. It builds up in the liver, sometimes causing irreversible damage, and then, when the liver’s capacity to store copper is exceeded, the mineral is released into the bloodstream where it can damage the brain, eyes, joints, and kidneys.
The majority of ATP7B mutations are passed from one generation to the next. People who develop Wilson’s disease inherit two defective copies of the ATP7B gene, one from each parent. If both parents are carriers of one abnormal Wilson's gene, they have a twenty-five percent chance of having a child with two normal genes; a fifty percent chance of having a child who also is a carrier; and a twenty-five percent chance of having a child with two recessive genes who will develop the disease.2 Wilson’s disease carriers, who have only one copy of the defective gene, won't become ill or exhibit symptoms, but as a carrier they can pass the gene onto their children.
Diagnosing wilson’s disease
Since early treatment can sometimes prevent or lessen the severity of Wilson’s disease, diagnosis is vital. However, the disease is rare and its symptoms are similar to those associated with other liver diseases, many of them appearing bit by bit over time. For this reason, Wilson’s disease is challenging to diagnose.
- Blood and urine tests measure the amount of ceruloplasmin and copper in the blood, and test the amount of copper excreted in urine.
- Eye exams via a microscope with a high-intensity light source confirm the presence of Kayser-Fleischer rings.
- Genetic testing (DNA mutation analysis) can identify the mutations that cause Wilson's disease.
- Liver biopsies examine tissue for excess copper.
Treating wilson’s disease
Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body. Once a diagnosis has been made, treatment involves the initial removal of excess copper, medication for the prevention of subsequent copper build-up, a reduction of copper intake, and the treatment of any liver or central nervous system damage.
Removing excess copper
D-penicillamine (Cuprimine, Depen) – Known as a chelation therapy, this drug binds to copper, forming a water-soluble substance that is excreted in urine. An effective treatment, d-penicillamine can also cause serious side effects such as birth defects, bone marrow suppression, rashes, skin problems, and a worsening of neurological symptoms. Vitamin B6 supplements are required with this treatment as d-penicillamine can cause deficiencies.
Trientine hydrochloride (Syprine) – Also a chelating agent, trientine is less toxic than d-penicillamine. A potential worsening of neurologic symptoms is a major side effect.
Zinc acetate (Galzin) – This mineral blocks the digestive tract’s absorption of copper from food. While zinc has few side effects, it's slower acting than either d-penicillamine or trientine.
Once treatment begins, Wilson’s disease stops progressing, and many symptoms decrease in severity.
Medication for prevention of copper build-up
Once the level of copper has been reduced to a safe level, maintenance therapy begins. This normally includes low doses of zinc and either d-penicillamine or trientine hydrochloride. Blood and urine is monitored to confirm copper is being maintained at a safe level.
Reducing copper intake
People with Wilson’s disease ought to reduce their dietary copper intake. This can be achieved by avoiding foods such as avocados; bran products; chocolate; dried fruit; dried beans, lentils, and peas; liver; mushrooms; nuts; and shellfish. Test drinking water for copper content and avoid multi-vitamins containing copper.
A liver transplant may be the only option for those with severe cirrhosis, fulminating hepatitis, and/or other serious liver disorders.
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1. Mayo Foundation for Medical Education and Research (MFMER), “Wilson’s disease,” http://www.mayoclinic.com/health/wilsons-disease/DS00411 (accessed March 3, 2009).