US-ORPH-CORP-003
Wilson Disease is a genetic disorder characterized by gradual accumulation of copper in the body, which affected individuals are unable to remove effectively because of a faulty copper transporter mechanism in the liver. Without appropriate treatment, copper builds up in the tissues and organs, including the liver and brain. 1
Although the body needs copper for it to work correctly, a normal diet contains more copper than it needs. In people without Wilson Disease, the liver processes the necessary amount and excretes the excess copper into the bile, which is then removed from the body in feces. 1
Although the body needs copper for it to work correctly, a normal diet contains more copper than it needs. In people without Wilson Disease, the liver processes the necessary amount and excretes the excess copper into the bile, which is then removed from the body in feces. 1
Approximately 1 in every 30,000 of people in the world have a genetic mutation that stops their liver cells from being able to process and remove excess copper. The excess copper accumulates in the liver and in other organs in the body and damages them– this is what causes Wilson Disease. 1
Due to copper deposits in different parts of the body, Wilson Disease leads to a wide range of signs and symptoms meaning that the disease affects each person differently. Some of the main signs and symptoms are outlined below: 1
Due to copper deposits in different parts of the body, Wilson Disease leads to a wide range of signs and symptoms meaning that the disease affects each person differently. Some of the main signs and symptoms are outlined below: 1
| Hepatic | Scarring of the liver (cirrhosis) which prevents normal functioning. Liver failure can occur slowly over years (chronic), or suddenly (acute). |
|---|---|
| Neurologic | Tremors, speech difficulties, migraine headaches, insomnia, and even seizures can occur. |
| Psychiatric | Psychiatric symptoms might include depression and personality changes. |
| Other | The kidneys and bones can also be affected in Wilson Disease, potentially causing kidney stones or arthritis, respectively. Dark rings around the iris (colored part) of the eye or cataracts may occur in some people. |
Please note, this is not a comprehensive list of symptoms associated with Wilson Disease.
A low copper diet and regularly taking chelating medicines (such as CUVRIOR) can help to keep copper in the body at acceptable levels1.