What is Wilson’s Disease?
BDS (Bachelor of Dental Surgery), 6 years of experience
What is the meaning of Wilson’s Disease?
Wilson’s disease is a rare type of genetic disease that causes copper poisoning in the body.
The disease affects one in a hundred people. In Wilson’s disease, an excessive amount of copper accumulates in a person’s body. This increased level of copper in the body proves to be harmful. It can damage the liver, eyes, and brain. If the condition becomes more serious, then the person needs immediate treatment. Copper plays an essential role in the development of healthy bones, nerves, collagen, and skin pigment called melanin. Normally, copper is absorbed from the food, and the excess is excreted through a substance produced in the liver, known as bile. In the case of Wilson’s disease, the copper is not eliminated properly and instead accumulates in the body. If you experience the initial symptoms of Wilson’s disease, do not ignore them and get timely treatment.
Let us tell you about Wilson’s disease in today’s article.
- What are the causes of Wilson’s Disease?
- What are the risk factors of Wilson’s Disease?
- What are the symptoms of Wilson’s Disease?
- How to diagnose Wilson’s Disease?
- What is the treatment for Wilson’s Disease?
- What are the complications of Wilson’s Disease?
- What are the home remedies for Wilson’s Disease?
What are the causes of Wilson’s Disease?
- Wilson’s disease is a genetic disorder.
- It is an autosomal recessive trait, meaning the affected person inherits one copy of the defective gene from each parent.
- In case an individual receives only one abnormal gene, the person becomes a carrier of the disease.
- Mutations or changes in the ATP7B gene are responsible for Wilson’s disease.
- This gene directs the production of a protein called copper transporting ATPase2, which carries copper from your liver to other parts of the body.
- In addition, this protein called ATPase 2 also works to remove excess copper from the body.
- If there is a change in the ATP7B gene, it inhibits or disrupts the functioning of the copper-transporting protein, so that the remaining copper in the body is not removed and there is an excess of copper in the body.
- As a result, the accumulation of copper takes a toxic form and works to harm the person’s body.
( Know more about- What is Liver Diseases? )
What are the risk factors of Wilson’s Disease?
Certain factors increase the risk of developing Wilson’s disease and may include:
- Family history, especially if a sibling or parent is affected
- 5 to 40 years of age
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What are the symptoms of Wilson’s Disease?
The symptoms of Wilson’s disease vary widely, depending on which organ is affected. They can be confused for other diseases or conditions. Wilson’s disease can only be diagnosed by medical and diagnostic tests. Some of the symptoms associated with Wilson’s disease are:
- Related to the liver:
The following signs may indicate an accumulation of copper in the liver:
- Being weak
- Feeling tired
- Weight loss
- Nausea
- Vomiting
- Loss of appetite
- Itching
- Jaundice, or yellowing of the skin
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- Edema (fluid accumulation) and swelling of legs or abdomen
- Abdominal (stomach) pain or swelling
- Spider angiomas, or having visible branch-like blood vessels on the skin
- Muscle cramps
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- Neurological symptoms:
The following symptoms can be seen due to the accumulation of copper in the brain:
- Loss of memory, speech, or vision
- Unusual walking
- Headache ( Know more about- What is Migraine ? )
- Drooling
- Insomnia ( Know more about– What is Insomnia ? )
- Clumsiness with hands
- Personality changes
- Change in mood
- Depression ( Know more about- What is Depression ? )
- Facing problems in school
In advanced stages, symptoms may include:
- Muscle cramps
- Seizures ( Know more about- What is Epilepsy ? )
- Muscle pain during movement.
Symptoms due to copper build-up in other organs:
- Bluish discoloration of nails
- Kidney stones ( Know more about- What is Kidney Stone ? )
- Premature osteoporosis (low bone density)
- Gout (a type of arthritis characterized by severe pain, tenderness in joints, and redness)
- Irregularity of menstruation ( Know more about- What are Irregular periods? )
- Low blood pressure
( Know more about- What is Fatty Liver Disease? )
How to diagnose Wilson’s Disease?
Diagnosis of Wilson’s disease is challenging as the symptoms are similar to other liver diseases, like hepatitis. The following tests may be helpful to diagnose the condition:
- Blood tests: Blood tests help in monitoring your liver function and checking the protein level that binds copper in the blood (ceruloplasmin), and the copper level in the blood.
- Urine tests: The doctor may want to measure the amount of copper excreted in urine during a 24-hour period.
- Eye exam: A microscope with a slit lamp (high-intensity light source) is used by an ophthalmologist to check the eyes for Kayser-Fleischer rings, which are caused due to excess copper in the eyes. Wilson’s disease may also cause a type of cataract, known as sunflower cataract, that can be detected by an eye exam.
- Biopsy: A sample of the liver tissue is excised by the doctor and sent to the laboratory to check for excess copper.
- Genetic testing: A blood test can help in identifying the genetic mutations or changes that may cause Wilson’s disease. The mutations in the family can indicate the need to screen siblings and start treatment before the onset of any symptoms.
( Know more about- What is Liver Function Tests? )
What is the treatment for Wilson’s Disease?
There is no exact treatment for Wilson’s disease. However, through some therapies and medicines, the effects of Wilson’s disease can be reduced in the individual. The different ways to treat Wilson’s disease are:
Medications:
- The doctor may prescribe certain medications, called chelating agents, which bind with copper and prompt the organs to release copper into the bloodstream.
- The copper is later filtered by the kidneys and released into the urine.
- Treatment is then provided to prevent the buildup of copper again in the body.
- Treatment using medications for Wilson’s disease is lifelong.
- Medications that are recommended include chelating agents like penicillamine and trientine.
- Zinc acetate prevents the body from copper absorption from the food consumed. It is used as a maintenance therapy to prevent copper build-up after treatment with penicillamine or trientine.
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Surgery:
- In case of severe liver damage, a liver transplant may be required.
- The surgeon replaces the diseased liver with a healthy donor liver.
( Know more about- What is Liver Transplant Surgery? )
What are the complications of Wilson’s Disease?
If Wilson’s disease is left untreated, the condition can be fatal. Some of the complications associated with Wilson’s disease include:
- Cirrhosis (scarring of the liver)
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- Liver failure
- Neurological problems (nerve-related problems) causing clumsy gait, involuntary movements of muscle movements, and speech difficulties
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- Kidney problems, like kidney stones
- Psychological disorders, like depression, irritability, changes in personality, bipolar disorder, and psychosis
- Blood disorders, like hemolysis (destruction of red blood cells) leading to jaundice and anemia
( Know more about- What is Anemia?)
- Side effects due to treatment for Wilson’s disease may include:
- Medications like penicillamine and trientine may cause skin problems, kidney problems, suppression of bone marrow, worsening of the neurological symptoms
- Zinc acetate can cause an upset stomach
- Liver transplant can cause side effects like bleeding, infection, blood clot formation, failure of the donated liver, rejection of the donated liver, mental confusion, seizures, bile duct leaks, shrinking of bile ducts
What are the home remedies for Wilson’s Disease?
- Limit the consumption of copper in the diet. Foods that contain a high level of copper and should be avoided include:
- Shellfish
- Liver
- Nuts
- Chocolate
- Mushrooms
- Avoid taking multivitamins containing copper
( Know more about – Benefits of Chocolate)
We hope that we could answer all your questions regarding Wilson’s disease through this article.
If you want more information about Wilson’s disease and its treatment, you can contact a Hepatologist.
We only aim to provide you with information through this article. We do not recommend any medicine or treatment to anyone. Only a doctor can give you the best advice and correct treatment plan.
