Wilson disease - Dubai Hepatology Clinic

Wilson disease is a rare genetic disorder that causes excessive copper accumulation in various organs of the body, particularly the liver, brain, and other tissues.

In Wilson disease, there is a mutation in the ATP7B gene, which is responsible for the production of a protein that helps transport copper out of the liver and into bile for elimination. As a result, copper builds up in the liver and is released into the bloodstream, leading to its deposition in other organs, including the brain, kidneys, and cornea.

The excess copper accumulation can cause damage to these organs, especially the liver and the central nervous system. The severity and progression of Wilson's disease can vary widely among individuals.

Symptoms and manifestations of Wilson disease:

Symptoms and manifestations of Wilson disease can appear at different ages, ranging from childhood to early adulthood. Common signs and symptoms include:

1. Liver-related symptoms: Hepatitis, hepatomegaly (enlarged liver), jaundice (yellowing of the skin and eyes), abdominal pain, and abnormal liver function tests.
2. Neurological symptoms: Neurological problems are common and may include tremors, difficulty with fine motor skills, stiffness, dystonia (involuntary muscle contractions), impaired speech, behavioral changes, and psychiatric symptoms such as depression, anxiety, or personality changes.
3. Kayser-Fleischer rings: These are copper deposits that appear as a golden-brown ring around the cornea of the eye. They are characteristic of Wilson disease but are not always present, especially in the early stages.
4. Other symptoms: Fatigue, weight loss, anemia, kidney problems, and menstrual irregularities in women.

Diagnosis of Wilson disease:

Diagnosing Wilson disease involves a combination of clinical evaluation, blood tests to measure copper levels and assess liver function, and genetic testing to identify mutations in the ATP7B gene. Imaging studies such as ultrasound, MRI, or CT scan may be used to evaluate liver damage.

Wilson Disease Treatment:

The mainstay of treatment for Wilson disease is copper chelation therapy, which involves the use of medications that help remove excess copper from the body. The most commonly used medication is D-penicillamine, which binds to copper and promotes its excretion. Other medications, such as trientine or zinc salts, may be used as alternatives or in combination with D-penicillamine. Lifelong treatment is usually required to control copper levels and prevent organ damage.

In cases where liver damage is severe or there is liver failure, liver transplantation may be necessary.

It is important for individuals with Wilson disease to receive lifelong medical care and monitoring to manage their condition effectively. Early diagnosis and treatment offer the best outcomes in terms of minimizing organ damage and improving quality of life.

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