Wilson's disease

what is Wilson's disease ?

Wilson's disease is a rare genetic disorder that affects the way the body handles copper. It is caused by a mutation in the ATP7B gene, which provides instructions for producing a protein that helps regulate the level of copper in the body.

In people with Wilson's disease, the body is unable to properly excrete excess copper. As a result, copper builds up in the liver, brain, and other vital organs, causing damage over time. The disease typically develops in childhood or adolescence and, if left untreated, can lead to serious complications, including liver cirrhosis, brain damage, and movement problems.

Symptoms of Wilson's disease can vary widely, but common ones include fatigue, abdominal pain, jaundice, tremors, muscle rigidity, and difficulty speaking or swallowing. The disease can also cause psychiatric symptoms, such as depression, anxiety, and behavioral changes.

Diagnosis of Wilson's disease is typically made through a combination of blood tests, genetic testing, and liver biopsy. Blood tests can measure the level of copper in the blood and urine, while genetic testing can confirm the presence of the ATP7B gene mutation. A liver biopsy can provide information about the amount of copper stored in the liver and the degree of liver damage.

Treatment for Wilson's disease is aimed at reducing copper levels in the body and preventing further damage. This typically involves taking a medication called penicillamine, which helps the body excrete excess copper. People with Wilson's disease may also need to follow a low-copper diet and avoid supplements and other sources of copper.

In severe cases, liver transplantation may be necessary to treat liver failure. In some cases, a portion of the liver may be removed surgically to reduce copper levels in the body.

It is important for people with Wilson's disease to receive regular medical care, including monitoring of liver function, to help prevent complications. Early diagnosis and treatment can prevent or delay the progression of the disease and improve long-term outcomes.

Wilson's disease is a rare condition, affecting about 1 in 30,000 people worldwide. It is more common in certain populations, including people of Ashkenazi Jewish descent. The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

Overall, Wilson's disease is a serious but treatable condition that requires prompt medical attention. With proper management, people with Wilson's disease can lead healthy, active lives.