Back to the old format of the "blog", researching on topics. So this person's doctor suspects that __ has this, thus __ asked me to research, as __ is lazy to do it. hahaha

Wilson's Disease is named after Dr. Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912. Wilson's Disease is a genetic disorder that prevents the body from getting rid of extra copper. While copper is needed by one to lead a healthy life, too much is dangerous. In Wilson's Disease, copper builds up in the liver, eyes, brain and other organs. Over time, high copper levels can cause life-threatening organ damage.

People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms. Most people with Wilson disease have no known family history of the disease. A person's chances of having Wilson disease increase if one or both parents have it.


Wilson disease is caused by a buildup of copper in the body. Normally, copper from the diet is filtered out by the liver and released into bile, which flows out of the body through the gastrointestinal tract. People who have Wilson disease cannot release copper from the liver at a normal rate, due to a mutation of the ATP7B gene. When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream and travels to other organs—including the brain, kidneys, and eyes.

Wilson disease first attacks the liver, the central nervous system, or both.
A buildup of copper in the liver may cause ongoing liver disease. Rarely, acute liver failure occurs; most patients develop signs and symptoms that accompany chronic liver disease, including

• swelling of the liver or spleen
• jaundice, or yellowing of the skin and whites of the eyes
• fluid buildup in the legs or abdomen
• a tendency to bruise easily
• fatigue

A buildup of copper in the central nervous system may result in neurologic symptoms, including

• problems with speech, swallowing, or physical coordination
• tremors or uncontrolled movements
• muscle stiffness
• behavioral changes
  
  

Other signs and symptoms of Wilson disease include

• anemia
• low platelet or white blood cell count
• slower blood clotting, measured by a blood test
• high levels of amino acids, protein, uric acid, and carbohydrates in urine
• premature osteoporosis and arthritis

Kayser-Fleischer rings result from a buildup of copper in the eyes and are the most unique sign of Wilson disease. They appear in each eye as a rusty-brown ring around the edge of the iris and in the rim of the cornea. The iris is the colored part of the eye surrounding the pupil. The cornea is the transparent outer membrane that covers the eye.

Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.

Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage.

The drugs d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine) release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted in urine. A potential major side effect of both drugs is that neurologic symptoms can become worse—a possible result of the newly released copper becoming reabsorbed by the central nervous system. About 20 to 30 percent of patients using d-penicillamine will also initially experience other reactions to the medication, including fever, rash, and other drug-related effects on the kidneys and bone marrow. The risk of drug reaction and neurologic worsening appears to be lower with trientine hydrochloride, which should be the first choice for the treatment of all symptomatic patients.

Maintenance therapy begins when symptoms improve and tests show that copper has been reduced to a safe level. Maintenance therapy typically includes taking zinc and low doses of either d-penicillamine or trientine hydrochloride. Blood and urine should be monitored by a health care provider to ensure treatment is keeping copper at a safe level.

People with Wilson disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper. Other foods high in copper—including mushrooms, nuts, and chocolate—should be avoided during initial therapy but, in most cases, may be eaten in moderation during maintenance therapy. People with Wilson disease should have their drinking water checked for copper content and should not take multivitamins that contain copper.

If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.

Credits:
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/ (100% of information)
http://en.wikipedia.org/wiki/File:Autorecessive.svg

---

Make the most of what you can do on your PC and the Web, just the way you want. Windows Live