A third of Wilson's disease diagnostic test involves measuring the level of copper in the liver. Consists of taking a sample of liver tissue (biopsy). It is one of the most effective ways to detect disease, but is more difficult. Other tests that may be used include: Measuring copper excreted in the urine daily (every 24 hours), measuring ceruloplastine’s ability to bind to some form of copper (Wilson's disease is low in) DNA tests.  Molecular genetic tests are not very effective in diagnosing Wilson's disease because of the large number of possible genetic mutations.

-Treatment for clinical symptoms of Wilson's disease:  Wilson's disease treatment goal is to remove excess copper and prevent its accumulation. Once you begin treatment, the disease stop evolution and many signs and symptoms are improving. But some problems require more time to improve. Other disorders - in particular, liver damage and certain neurological or psychological symptoms - are not fully reversible.

Chelated therapy
Chelated therapy is the use of chemicals that bind and remove metals and minerals from the body.

Penicillamine.
Penicillamine is the first drug approved for chelated copper for cure the clinical symptoms of Wilson's disease. Works by binding to copper and create a water-soluble complex that is excreted through urine.  Although an effective treatment, penicillamine can cause serious side effects, such as skin problems, bone marrow suppression, worsening of neurological symptoms and congenital defects. Penicillamine should not be managing people with kidney disease or those allergic to penicillin.People who follow treatment with penicillamine should consume vitamin B6 supplements, because the drug can cause a severe deficiency of this vitamin.



Trientina
A chelating agent is trientina that bind with copper and help remove it from the body. Since penicillamine is less toxic than many doctors recommend as a first line treatment, especially in people with neurological or hepatic symptoms.  Trientina also binds iron, and taking supplements rich in this mineral may reduce efficacy.

Zinc acetate
Acting differently than drugs chelate, zinc helps prevent copper absorption in stomach and small intestine. Zinc shows few side effects, but works slower than penicillamine and trientina. Is usually given as initial treatment only to pregnant women, people without symptoms of liver, or those who can not tolerate stronger medications. Doctors can alter the treatment of persons receiving penicillamine and zinc nitrate trientina once symptoms have improved. Zinc can also be used in combination with penicillamine in patients with neurological symptoms. People with Wilson's disease should follow medical treatment for life. Also, they should avoid foods rich in copper, such as liver, shellfish, mushrooms, nuts, chocolate, dried fruit, avocado.



Liver transplantation. In the case of patients with severe cirrhosis, fulminating hepatitis or other serious liver disease, liver transplantation may be the only treatment option.

-Prognosis:  If it’s not treated, Wilson's disease is always fatal.  With treatment, symptoms may continue to worsen for the first 6-8 weeks. After this period, clear improvements begin to be observed. However, it may take several years (2-5) for the treatment to achieve maximum efficiency in the brain and liver. Even if most patients do not regain the original level of functioning.  Patients with Wilson's disease must follow a certain form of treatment to prevent the rest of their life to increase the level of copper in the body. Discontinuation may lead to a relapse of the disease which is not reversible and can cause death.