What is Wilson's Disease?

Wilson's Disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects about one in thirty thousand people worldwide.

The genetic defect causes excessive copper accumulation. Small amounts of copper are essential for the body to maintain its lifefunctions. Copper is present in most foods, appearing in various quantities and this depends on the food type, location where it is grown and how the food is processed. Most people get much more dietary copper than they need and healthy people excrete the copper they don't need. However, Wilson's Disease patients cannot excrete copper.

The first part of the body that copper affects is the liver. In about half of WD patients, the liver is the only affected organ. The physical changes in the liver are only visible under a microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson's Disease hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson's Disease.

Diagnosis is made by relatively simple tests which almost always make the diagnosis. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. It is very important to diagnose Wilson's Disease as early as possible, since severe liver damage can occur before there are symptoms of the disease. Individuals with Wilson's Disease may falsely appear in excellent health. Blood ceruloplasmin, urine copper, eye test for Kayser Fleischer rings, and liver biopsies are used to make the diagnosis.

The goal of drug therapy in individuals with Wilson disease is to remove excess copper from the body and prevent ongoing copper accumulation and deposition. Therefore, drug therapy must be continued throughout life. Inadequate treatment or disruption of drug therapy may result in life-threatening complications or irreversible organ damage.

The initial approach in treating Wilson disease is the removal of excessive copper with chelating agents. The most common agent used for this purpose is D-penicillamine (Cuprimine, Depen). This drug binds to copper and forms a stable compound that is then released in urine. D-penicillamine depletes pyridoxine or Vitamin B6 from the body. Therefore, dietary supplementation with pyridoxine is required. The side effects of D-penicillamine range from minor disturbances to severe or life-threatening complications, such as aplastic anemia, immune complex nephritis, systemic lupus erythematosus, or myasthenia gravis. In some individuals, neurologic symptoms may worsen during penicillamine therapy.

D-penicillamine therapy may be withdrawn if any of the following side effects occur:

* Rash
* Fever
* Low levels of circulating white blood cells (leukopenia)
* Low levels of circulating platelets (thrombocytopenia)
* Swelling of or other problems with lymph nodes (lymphadenopathy)
* Presence of protein in the urine (proteinuria)

After these side effects resolve, D-penicillamine therapy may be resumed and is typically administered at a small, gradually increasing dosage. The drug should be withdrawn in those patients who develop tolerance for the drug; however, this is a rare occurrence. Those who experience ongoing worsening of neurologic symptoms should also be withdrawn from D-pencillamine therapy.

Other chelating agents used to treat individuals with Wilson disease include trientine (Syprine) as well as a drug known as tetrathiomolybdate. There are indications that neurologic symptoms may not worsen during tetrathiomolybdate therapy. More studies are needed to determine the effects of tetrathiomolybdate treatment.

In patients with Wilson disease, ongoing maintenance therapy usually involves use of zinc acetate (Galzin), which blocks the absorption of copper in the intestines and promotes the elimination of copper is in the stool. Zinc acetate stimulates the production of the compound metallothionein, which has a high affinity for binding copper. Therefore, copper is not absorbed through the intestine nor passed on to the liver or other organs of the body.

Copper is present in small amounts in most foods. Patients with Wilson disease must avoid copper-rich foods such as cocoa, chocolate, liver, mushrooms, nuts, and shellfish and ensure that their copper intake restricted to less than 1/mg per day.

Liver transplantation may be considered in patients with severe, overwhelming (fulminant) liver disease. Other treatment is symptomatic and supportive.


Links:

Healthline

Wilson's Disease Association

Emedicine




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