About Wilson Disease

What is Wilson Disease?

Wilson Disease is a rare inherited disorder that affects the body's ability to metabolize copper. It causes an excessive amount of copper to accumulate in the liver, brain, and other vital organs, leading to serious health problems. Symptoms of Wilson Disease can include jaundice, fatigue, abdominal pain, tremors, and difficulty speaking. If left untreated, Wilson Disease can be fatal. Treatment typically involves medications to reduce copper levels and a low-copper diet.

What are the symptoms of Wilson Disease?

The symptoms of Wilson Disease vary depending on the organs affected, but may include:

-Fatigue

-Abdominal pain

-Jaundice

-Vomiting
-Diarrhea
-Loss of appetite
-Weight loss
-Muscle stiffness
-Tremors
-Difficulty speaking
-Difficulty swallowing
-Behavioral changes
-Depression
-Anxiety
-Personality changes
-Liver enlargement
-High levels of copper in the blood
-Kayser-Fleischer rings (brownish-green rings around the cornea of the eye)

What are the causes of Wilson Disease?

Wilson Disease is caused by a genetic mutation in the ATP7B gene, which is responsible for producing a protein that helps regulate copper levels in the body. This mutation causes the body to absorb and store too much copper, leading to a buildup of copper in the liver, brain, and other organs.

What are the treatments for Wilson Disease?

The primary treatment for Wilson Disease is medication to reduce the amount of copper in the body. This is usually done with a combination of medications, including penicillamine, trientine, and zinc. In some cases, a liver transplant may be necessary. Other treatments may include dietary changes, such as avoiding foods high in copper, and taking vitamin and mineral supplements.

What are the risk factors for Wilson Disease?

1. Family history: Wilson Disease is an inherited disorder, so having a family member with the condition increases the risk of developing it.

2. Age: Wilson Disease is most commonly diagnosed in children and young adults, although it can occur at any age.

3. Gender: Wilson Disease is more common in males than females.

4. Ethnicity: Wilson Disease is more common in people of Mediterranean, Middle Eastern, and Eastern European descent.

5. Liver disease: People with liver disease, such as hepatitis or cirrhosis, are at an increased risk of developing Wilson Disease.

Is there a cure/medications for Wilson Disease?

Yes, there are medications available to treat Wilson Disease. These medications help to reduce the amount of copper in the body and prevent it from building up in the organs. The most commonly used medications are penicillamine, trientine, and zinc. Your doctor will determine which medication is best for you.