Do you sometimes just feel tired? Or do you experience things like a feeling of weakness, stomach discomfort, and mental confusion for no reason? There are some strange diseases that affect the body in ways we can't even imagine. Today we are going to talk about a disease that is a bit rare, but if you are properly informed, you can identify it early and minimize the damage it can cause to your life. This is called Wilson Disease .
What is Wilson Disease?
Simply put, Wilson's Disease is a rare genetic condition that causes our bodies to accumulate more copper than they need. This copper accumulates in our liver and brain. Our bodies actually need a small amount of copper from food to stay healthy. However, if someone with Wilson's Disease is not treated properly, the copper levels in the body can become dangerously high, causing life-threatening organ damage.
Who is most affected by Wilson's disease?
Wilson's disease is a disease that is inherited from parents to children . In order to develop it, the child must receive one abnormal gene from each of the parents. This is called an autosomal recessive inheritance. It is very difficult to say exactly who will develop it. This is because most of the time, parents do not show any symptoms of having this abnormal gene in their body. Therefore, they do not know that they are a 'carrier' of this gene. However, if a close relative in your family has this disease, you may also be at risk.
How common is Wilson's disease?
This is a very rare disease . It is estimated that about one in 30,000 people develop the disease. However, if someone in the family has the disease, the chances of others developing it are higher. Even more people have only one of the faulty genes, called carriers. They usually do not have symptoms, but they can pass the disease on to their children. Since carriers do not have symptoms, it is difficult to say exactly how many people in the general population have the faulty gene.
How does Wilson's disease affect my body?
Wilson's disease, if not recognized and treated early, can lead to life-threatening complications . Copper builds up in the body to toxic levels, especially in the liver and brain. This can cause damage to these organs. When copper levels in the body increase, the way you feel can change. You may feel very tired, weak, and have aches and pains. If you have persistent weakness, fatigue, or pain, it is best to seek medical advice.
What are the symptoms of Wilson's disease?
The symptoms of Wilson's disease can vary greatly from person to person . Although it is a congenital condition, symptoms begin to appear after copper builds up in the liver, brain, eyes, or other organs. People with Wilson's disease usually develop symptoms between the ages of 5 and 40. However, some people may develop symptoms at a younger or older age.
Remember, sometimes these symptoms are similar to other liver diseases or mental health problems, so people can mistakenly think it's something else. It can be difficult to tell for sure if it's Wilson's disease until you get your copper levels tested.
Liver-related symptoms
Many people with Wilson's disease develop symptoms of hepatitis. They can also develop sudden liver failure. Symptoms include:
- Always tired.
- Nausea and vomiting.
- The food is tasteless.
- Pain on the right side of the abdomen, right over the liver.
- Dark urine.
- Light-colored stools.
- Yellowing of the whites of the eyes and skin (jaundice).
Some people may only experience symptoms if Wilson's disease develops complications such as chronic liver disease and cirrhosis. These include:
- Constant fatigue and weakness.
- Unimaginable weight loss.
- Swelling of the abdomen (ascites).
- Swelling of the lower legs, ankles, and feet (edema).
- Itchy skin.
- Severe jaundice.
Symptoms related to the central nervous system
When copper builds up in the body, people with Wilson's disease can develop symptoms that affect the central nervous system, which can affect mental health. Although these are more common in adults, they can also occur in children.
Symptoms related to the nervous system may include:
- Problems with speaking, swallowing, or physical coordination.
- Muscle stiffness.
- Tremors or uncontrolled movements (restlessness).
Wilson's disease symptoms that affect mental health:
- Anxiety.
- Changes in mood, personality, or behavior.
- Depression.
- A condition in which thoughts and feelings are disrupted and it is difficult to distinguish between truth and falsehood (psychosis).
Eye-related symptoms
Many people with Wilson's disease have green, gold, or brown rings (Kayser-Fleischer rings) around the edge of the cornea (the black part of the eye). These ``Kayser-Fleischer rings'' are caused by a buildup of copper in the eye. Your doctor can see these rings during a special eye exam (slit-lamp exam).
Many people with symptoms affecting the nervous system and diagnosed with Wilson's disease have these ``Kayser-Fleischer rings.'' Only about half of people with symptoms affecting only the liver can see these rings.
Other symptoms of Wilson's disease
Wilson's disease can also affect other parts of your body, causing symptoms like:
- Hemolytic anemia is caused by the breakdown of blood cells.
- Bone and joint problems (arthritis or osteoporosis).
- Heart muscle disease `(cardiomyopathy)`.
- Kidney problems (renal tubular acidosis or kidney stones).
What causes Wilson's disease?
The main cause of Wilson's disease is a mutation in the gene called ATP7B . This gene is responsible for removing excess copper from our body.
Normally, the liver releases extra copper into a fluid (bile). This bile is stored in the gallbladder. It helps digest food. Bile removes copper, as well as other toxins and waste products, from the body through the digestive tract. If you have Wilson's disease, your liver releases less copper into the bile. This causes the extra copper to stay in your body.
Can I inherit Wilson's disease?
Yes, you can inherit the mutation in the ATP7B gene that causes Wilson's disease. This means that the mutation is passed down from one parent to another. To develop Wilson's disease, a person must inherit two defective genes – one from their mother and one from their father (autosomal recessive) .
People who have one ATP7B gene without a mutation and the other with a mutation do not develop Wilson's disease. But they are carriers of the disease. This means that, depending on their partner's genetic status, they can pass on the healthy gene, the carrier state, or the disease to their children.
How is Wilson's disease diagnosed? (Diagnosis)
To diagnose Wilson's disease, your doctor will ask about your family medical history and your personal medical history to try to determine if your symptoms could be caused by this condition.
Doctors will examine you to see if there are any other signs that indicate problems with your liver, brain, or eyes. During an eye exam, the doctor will do a ``slit-lamp exam.`` This is a test that uses a special light to look for ``Kayser-Fleischer rings.``
If Wilson's disease is suspected, your doctor will order blood and urine tests.
What tests are used to diagnose Wilson's disease?
Wilson's disease is diagnosed through blood tests, urine tests, genetic testing, or a liver biopsy.
Blood tests
Blood tests can check many things in your blood:
- Ceruloplasmin: Ceruloplasmin is a protein that carries copper in the blood. People with Wilson's disease have low levels of ceruloplasmin.
- Copper: People with Wilson's disease may have higher or lower levels of copper in their blood.
- Alanine transaminase (ALT) and aspartate transaminase (AST): ALT and AST are liver enzymes that increase when the liver is damaged.
- Red blood cells: People with Wilson's disease may have a low red blood cell count (anemia).
If other medical tests cannot confirm or rule out Wilson's disease, your doctor may order a blood test to check for the genetic mutation that causes Wilson's disease.
A 24-hour urine collection test
Over a 24-hour period, you will collect your urine at home, in a special copper-free container provided by your doctor. A laboratory will test the amount of copper in your urine. People with Wilson's disease have higher than normal levels of copper in their urine.
Liver biopsy
If blood and urine tests cannot confirm or rule out Wilson's disease, your doctor may order a liver biopsy. In this procedure, your doctor takes a small sample of tissue from your liver. A pathologist examines the tissue under a microscope to look for signs of specific liver diseases such as Wilson's disease, liver damage, and cirrhosis. A piece of liver tissue is sent to a lab to be tested for copper.
Imaging tests
If you have symptoms related to your nervous system, your doctor may use imaging tests to look for signs of Wilson's disease or other conditions in the brain. These may include:
- MRI (Magnetic Resonance Imaging)
- `X-ray`
- `CT scan` (Computerized Tomography Scan)
How is Wilson's disease treated?
The main focus of treatment for Wilson's disease is to reduce the levels of toxic copper in your body, prevent organ damage, and prevent symptoms that occur when organs don't function properly . Treatment includes:
- Taking medications that remove copper from the body (chelating agents - e.g. D-penicillamine, Trientine, Tetrathiomolybdate).
- Taking zinc to prevent the absorption of copper from the intestines.
- Eating a diet low in copper.
People with Wilson's disease need lifelong treatment. If treatment is stopped, acute liver failure can occur. Your doctor will do regular blood and urine tests to check how well the treatment is working.
What are the medications for Wilson's disease?
Your doctor may suggest various medications to reduce the amount of copper in your body.
Chelating agents
Chelating agents work by removing copper from your body. Examples of these include:
- Penicillamine
- Trientine
When treatment begins, doctors gradually increase the dose of chelating agents. Higher doses are needed until the excess copper in the body is removed. Once Wilson's disease symptoms have improved and tests confirm that copper is at a safe level, the doctor may prescribe lower doses of chelating agents as maintenance treatment. Lifelong maintenance treatment prevents copper from accumulating again.
These medications can have side effects, so it's important to ask your doctor if you need to take any supplements, such as vitamins, or take any precautions before surgery.
Zinc
Zinc prevents the absorption of copper from the intestines. Your doctor may prescribe zinc as a maintenance treatment after removing excess copper with chelating agents. If you have Wilson's disease but no symptoms, your doctor may still prescribe zinc.
How is Wilson's disease treated during pregnancy?
If you are pregnant, you should ask your doctor how to manage Wilson's disease throughout your pregnancy. Because the fetus needs small amounts of copper, your doctor may prescribe low-dose chelating agents. It can be helpful to have an obstetrician who is familiar with Wilson's disease.
Also, ask your doctor if it is safe to breastfeed while being treated for Wilson's disease.
What foods should you not eat if you have Wilson's disease?
If you have Wilson's disease, your doctor may advise you to avoid certain foods that are high in copper. In particular, you should avoid:
- Shellfish, such as clams and oysters
- Liver
Other foods high in copper:
- Chocolate
- Dried fruit
- Dried beans and peas
- Mushrooms
- Nuts (such as cashews, peanuts)
After your copper levels have been lowered by treatment and maintenance treatment has begun, talk to your doctor about whether you can eat some of these foods in moderation.
If your tap water comes from a well or through copper pipes, check the copper level in your water. You may also want to use a water filter to remove copper from your tap water.
If you are considering taking supplements, such as vitamins, talk to your doctor before taking them. Some supplements may contain copper.
Are there any complications in the treatment?
Wilson's disease can cause complications, but early detection and treatment can reduce the risk of side effects. The medications used to treat Wilson's disease can also have side effects, so ask your doctor what to watch out for.
Acute liver failure
Wilson's disease can cause acute liver failure. This is when the liver suddenly loses function without warning. About 5% of people with Wilson's disease have acute liver failure at the time of diagnosis. This condition may require a liver transplant.
People with acute liver failure due to Wilson's disease often also develop acute kidney failure and a type of anemia called hemolytic anemia.
Cirrhosis
Cirrhosis is a condition in which healthy liver tissue is replaced by scar tissue, making the liver unable to function properly. The scar tissue also blocks blood flow through the liver to some extent. As cirrhosis progresses, the liver begins to fail.
Between 35% and 45% of people diagnosed with Wilson's disease have cirrhosis at the time of diagnosis.
Cirrhosis increases the risk of developing liver cancer. However, doctors have found that people who develop cirrhosis due to Wilson's disease are less likely to develop liver cancer than those who develop cirrhosis due to other causes.
Liver failure
Cirrhosis can eventually lead to liver failure. Liver failure is when your liver is so severely damaged that it stops working. This is also called end-stage liver disease. This condition may require a liver transplant.
How are complications of Wilson's disease treated?
If Wilson's disease causes cirrhosis, your doctor may be able to treat your complications with medication or surgery.
If Wilson's disease causes acute liver failure or chronic liver failure due to cirrhosis, you may need a liver transplant. Some people who have a liver transplant make a full recovery from Wilson's disease. But your doctor will monitor you closely to make sure the transplant is successful.
How soon will I feel better after treatment?
Treatment for Wilson's disease is a lifelong process . The time it takes for you to feel better depends on the severity of your symptoms. However, after four to six months of treatment, followed by regular maintenance treatment, your symptoms can be significantly reduced. Your doctor will perform regular tests to check how well your Wilson's disease treatment is working. He or she will also adjust the dose of your medication to suit your body's needs.
If I have Wilson's disease, what should I expect?
Depending on your diagnosis, you may or may not have symptoms associated with Wilson's disease. If you do have symptoms, they can be life-threatening if you don't get treatment. The most important thing is to follow your doctor's treatment plan exactly to remove toxic copper from your body and prevent organ damage.
Wilson's disease is a lifelong condition, and there is no cure. Untreated Wilson's disease has a short life expectancy. People who are diagnosed with Wilson's disease and successfully undergo a liver transplant have a good life expectancy. However, even after the transplant, they will need to be under medical supervision for the rest of their lives.
Can Wilson's disease be prevented?
Wilson's disease is the result of an inherited genetic mutation, so it cannot be prevented. If you have a family history of Wilson's disease, talk to your doctor about genetic testing to understand your risk of developing Wilson's disease or having a child with this genetic condition.
How can I take care of myself?
If you have Wilson's disease, you can take care of yourself by taking your medication as prescribed by your doctor and eliminating foods high in copper from your diet. With treatment, you can reduce your symptoms and prevent life-threatening complications.
When should I see my doctor?
If your Wilson's disease symptoms get worse, especially if they had previously improved, you should see your doctor. This may mean that your medication dosage needs to be changed.
If your Wilson's disease symptoms are preventing you from doing your normal daily activities, especially if you are unable to eat, are vomiting continuously, you develop psychosis, your skin turns yellow (jaundice), or you have severe stomach pain, go to the emergency room immediately or call 911.
What questions should I ask my doctor?
- Will I need a liver transplant?
- What are the side effects of the medications prescribed to treat Wilson's disease?
- If I get pregnant, will my baby get Wilson's disease?
- Can I take my medication if I get pregnant?
- How long do I need to take the medicine you prescribed?
Finally, remember (Take-Home Message)
Early diagnosis and treatment of Wilson's disease are the best ways to treat this lifelong genetic condition. You may need to make lifestyle changes to reduce copper in your diet. Be sure to see your doctor to make sure that your treatment is working to reduce the amount of copper in your body. The right treatment can help you get better and prevent life-threatening complications. Don't panic, the most important thing is to be aware and follow your doctor's advice.
` Wilson's disease, copper, liver, brain, genetic diseases, cirrhosis, Keiser-Fleischer rings
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