Wilson’s disease is a genetic disorder that affects the liver, brain, and other organs by accumulating extra copper in their cells. Our body needs a small amount of copper; the liver excretes the excess copper through the bile. In Wilson’s disease, the liver excretes a small amount of copper, and the excess copper accumulates in our body. Wilson is a rare disease that occurs in 1 per 7000 people who have a gene mutation.
Symptoms of Wilson’s disease are so variable according to where the copper deposits. It affects many organs, such as the liver, brain, and eyes. They take time to present and appear from 5 to 40 years old.
Excess copper is toxic to the liver cells. It causes hepatitis that may end in cirrhosis (Scarring) and failure. It is also harmful to the nervous system; it disrupts mental and physical abilities. Also, it affects the eyes and may impair vision. Other symptoms, such as anemia, osteoporosis, renal stones, and cardiomyopathy, may occur.
Your doctor will suspect that you may have Wilson’s disease from your medical history and his examination. Then, he can order some tests to confirm the initial diagnosis, such as blood tests, urine tests, and liver biopsy. Also, he can use imagining techniques like MRI, CT, and X-Rays.
Your doctor can manage your condition disease by decreasing the copper level in your blood by removing copper from the body and preventing its absorption from the intestine. He can use medications for this purpose. Liver transplantation is the last option when you have extensive liver failure.
If your parents are carriers, doctors can’t prevent this disease. Early diagnosis and treatment can reduce extensive organ damage.
Now, let us see Wilson’s disease in more detail. We will answer the following about it:
- What causes this disease?
- What are its symptoms, signs, and advanced complications?
- How will my doctor diagnose if you have this disease and confirm this diagnosis?
- How can your doctor manage this condition, and what are the available treatments?
Causes of Wilson disease
The direct cause is a mutation of the ATP7P gene on chromosome 13. This mutation prevents the removal of extra copper from the body. The liver is responsible for excreting excess copper through the bile. In Wilson disease, the liver wastes a small amount of copper; thus, more copper accumulates in different organs like the liver, brain, and eye. Wilson is an autosomal recessive disease. You should have two copies of the mutated gene to develop the disease.
If one parent has the gene mutation and the other parent doesn’t, you will carry one mutated copy. You won’t have the disease, but you may transfer the mutated copy to your children.
