Wilson disease
(Diseases)
On this page, you will find everything you need to know about Wilson’s Disease.
What is Wilson’s Disease?
Wilson’s disease is a hereditary disorder that occurs when both parents carry the gene responsible for it. It causes excessive copper accumulation in the body and primarily affects the brain and liver, with the potential to impact other parts of the body. Patients with Wilson’s disease often first experience impaired liver function, making early screening essential. Genetic testing is also recommended for family members. Although it is a rare disease, delayed treatment can become life-threatening.
If both parents carry the mutated gene for Wilson’s disease, there is a 25% chance that the child will inherit two copies of the mutated gene and develop Wilson’s disease.
- This is because Wilson’s disease is an autosomal recessive disorder. This means that a person needs to inherit two copies of the mutated gene—one from each parent—to develop the disease.
- In the case of carrier parents:
- There is a 25% chance the child will inherit two healthy copies of the gene.
There is a 50% chance the child will inherit one healthy copy and one mutated copy, becoming a carrier of the disease but not developing it.
There is a 25% chance the child will inherit two mutated copies and develop Wilson’s disease.
What are the symptoms of Wilson’s Disease?
- Liver-related symptoms:
- People with Wilson’s Disease often develop symptoms of liver inflammation. In some cases,sudden liver failure may occur (acute liver failure). Others may only show symptomswhen liver damage becomes chronic or cirrhosis develops. These symptoms may include:.
- Nausea and vomiting.
- Loss of appetite.
- Pain in the upper abdomen (above the liver).
- Dark colored urine.
- Pale colored stools.
- Yellowing of the whites of the eyes and skin (jaundice).
- Unexplained weight loss.
- Abdominal bloating due to fluid accumulation.
Swelling in the lower legs, ankles, or feet.
Itchy skin.
- Eye symptoms:
- People with the disease often experience certain eye abnormalities, such as:
The formation of copper deposits in the front surface of the eye (cornea), forming a green-to-brown ring called a Kayser-Fleischer ring.
Abnormalities in eye movement.
- Central nervous system symptoms:
- These symptoms are more common in adults but may also appear in children. They include:
- Difficulty speaking, swallowing, or with coordination.
Muscle stiffness.
- Symptoms of Wilson’s disease that affect mental health include:
Depression.
- Wilson’s Disease can also affect other parts of the body, causing symptoms such as:
- Arthritis.
- Cardiomyopathy.
Kidney problems (renal tubular acidosis or kidney stones).
Green, golden, or brown ringsATP7Baround the cornea (Kayser-Fleischer rings).
What causes Wilson’s Disease?
Wilson’s Disease is caused by a mutation in the ATP7B gene, which plays a key role in removing excess copper from the body. Under normal conditions, the liver excesses copper into bile, which is stored in the gallbladder and helps with digestion. Bile carries copper and other toxins out of the body through the digestive tract. In Wilson’s Disease, the liver cannot release enough copper into bile, leading to copper accumulation in the body.
- How is Wilson’s Disease diagnosed?
- The doctor will take a medical history and perform a physical exam. Additional tests may be requested, including:
- Eye examination.
- Blood tests.
- 24-hour urine copper collection.
Liver biopsy.
Imaging tests such as MRI, X-rays, or CT scans.
- How is Wilson’s Disease treated?
- Treatment focuses on reducing toxic copper levels in the body and preventing organ damage and symptoms caused by impaired organ function. It may include:
- Chelating agents that remove copper from the body, such as penicillamine or trientine
Zinc to block copper absorption from the intestines
Low-copper diet
Liver transplant may cure Wilson’s Disease and restore normal copper metabolism in patients. However, anyone receiving a transplant must take lifelong immunosuppressive medications to prevent organ rejection, which may have long-term side effects and complications.
What are the ways to prevent Wilson’s disease?
Wilson’s disease cannot be prevented because it is caused by an inherited genetic mutation. If a person has a family history of the disease, it is recommended to consult a doctor for genetic testing to determine the risk of developing the disease or the possibility of having a child with this genetic condition.
- What are the complications of Wilson’s disease?
- Wilson’s disease can lead to complications, but early diagnosis and treatment can reduce the risk of side effects. Complications include:.
Acute liver failure.
Cirrhosis.
Neurological symptoms that can make it difficult to live a normal life.In rare cases, Wilson’s disease can be fatal.
- Dietary guidelines for patients with Wilson’s disease:
- Patients must follow a specific lifestyle and diet to control copper levels in the body, which includes:
- Avoid shellfish: Refrain from eating all types of shellfish, such as shrimp, crab, and clams.
- Avoid liver: Do not eat animal liver of any kind.
- Limit or avoid mushrooms: Reduce the amount of mushrooms you eat, or avoid them completely.
- Limit or avoid nuts: Reduce the amount of nuts you eat, or avoid them completely.
- Limit or avoid dried fruits: Reduce the amount of dried fruits you eat, or avoid them completely.
Limit or avoid chocolate: Reduce the amount of chocolate you eat, or avoid it completely.
Do not take multivitamins that contain copper: Make sure the multivitamins you take do not contain copper.
These are general guidelines, and patients with Wilson’s disease should consult a doctor or dietitian to receive a nutritional plan tailored to their individual condition.
When should you see a doctor?
It is recommended to visit a doctor if the symptoms of Wilson’s disease worsen, especially if they had previously improved, as this may indicate the need to adjust the medication dosage. You should also go immediately to the emergency department or call the emergency number if the symptoms interfere with the patient’s daily routine, particularly if they are unable to eat, are experiencing persistent vomiting, show signs of psychosis, their skin turns yellow, or they feel severe abdominal pain.
Frequently Asked Questions:
