Description

Wilson's disease is a rare, inherited disease that causes the levels of copper to accumulate in several organs, especially the liver, brain, and eyes. Most people with Wilson's disease are diagnosed between the ages of 5 and 35. But the more young and older people can also be affected.

Copper plays a key role in the construction of the health of the nerves, bones, collagen and the skin pigment melanin. We tend to take in the copper of the food that you eat. The liver produces a substance called bile, which removes any excess of copper.

But in people with Wilson's disease, copper is not removed properly and instead accumulates. Sometimes it can be fatal if not treated. When diagnosed early, Wilson's disease is a curable disease, and many people with the condition to live a normal life.

Symptoms

Wilson's disease is present at birth, but symptoms do not appear until the levels of copper accumulate in the brain, liver, eyes, or other body. The symptoms vary according to the parts of your body, the disease affects.

These symptoms may include:

  • The fatigue and loss of appetite.
  • The yellowing of the skin and the sclera of the eye, known as jaundice.
  • Golden-brown or copper-colored rings around the iris of the eyes, known as Kayser-Fleischer rings.
  • The accumulation of fluid in the legs or the stomach area.
  • Problems with speech, swallowing, and / or physical coordination.
  • Depression, mood swings and personality changes.
  • Having trouble falling and staying asleep.
  • Uncontrolled movements or muscle stiffness.

When to see a doctor

Make an appointment with your doctor or other primary care provider if you have symptoms that concern you, particularly if a family member has Wilson's disease.

Causes

Wilson's disease is caused by a mutation passed from each parent. If you get only one affected gene, which do not contract the disease, but you're going to be a carrier. This means that you could pass the defective gene to their children.

Risk factors

You may be at increased risk of Wilson's disease if their parents or siblings have the condition. Ask your doctor if you should undergo genetic testing to find out if you have Wilson's disease. The diagnosis of the condition as soon as possible, it increases the chances of treatment success.

Complications

If Wilson's disease is not treated, it can sometimes lead to death. Serious complications include:

  • The scarring of the liver, also known as cirrhosis. As the liver cells try to repair the damage due to the high levels of copper, it forms scar tissue in the liver. This makes it more difficult for the liver to work.
  • Liver failure. This can occur suddenly — what is known as acute liver failure or decompensated Wilson disease. It can also come about slowly over the years. A liver transplant may be a treatment option.
  • Duration of the nervous system problems. Tremors, involuntary movements of the muscles, awkward walk and have a hard time talking in general to improve with the treatment for Wilson's disease. But some people have long-lasting problems of the nervous system, even with treatment.
  • Kidney problems. Wilson's disease can damage the kidneys, which leads to issues such as kidney stones and a number of unusual amino acids eliminated in the urine.
  • Mental health problems. These may include personality changes, depression, irritability, bipolar disorder, or psychosis.
  • Blood problems. These may include the destruction of the red blood cells — what is known as hemolysis. This leads to anaemia and jaundice.

Diagnosis

The diagnosis of Wilson's disease can be difficult because the symptoms are often as other liver diseases, such as hepatitis. Also, the symptoms may appear over time. Behavioral changes that come on gradually can be especially hard to link to Wilson's disease.

Doctors rely on symptoms and the results of the test to make the diagnosis. Tests and procedures used to diagnose Wilson's disease include:

  • Blood and urine tests. Blood tests can monitor your liver function and to check the level of a protein called ceruloplasmin that binds copper in the blood. You can check the level of copper in the blood. Your doctor may also want to measure the amount of copper that are eliminated in the urine during a 24-hour period.
  • Examination of the eyes. The use of a microscope with a high-intensity light, an eye doctor checks your eyes for Kayser-Fleischer rings. This is called a slit-lamp examination. These rings are caused by the extra copper on the eyes. Wilson's disease is also associated with a type of cataract, called a sunflower cataract. This waterfall can be seen during an eye exam.
  • Removing a sample of liver tissue for testing, also known as a biopsy. In a biopsy, the doctor inserts a thin needle through the skin and into the liver. Then, the doctor removes a small tissue sample. A testing laboratory, the extra tissue of copper.
  • The genetic testing. A blood test can identify the genetic changes that cause Wilson's disease. If you have the mutated gene that causes Wilson's disease, doctors can also be displayed on-screen brothers. If anyone has the mutation, which sibling can start treatment before symptoms begin.

Treatment

Your doctor may recommend medications called chelating agents for copper. These medications bind to copper and cause your organs to release copper into the bloodstream. Your kidneys then filter the copper and released into the urine.

Treatment then focuses on the arrest of copper to build up again. For severe liver damage, a liver transplant may be necessary.

Medications

If you are taking drugs for Wilson's disease, the treatment is for life. The medications include:

  • Penicillamine (Cuprimine, Depen). Penicillamine is a chelating agent for copper. Can cause serious side effects, including skin and kidney problems, and worsen symptoms of the nervous system. It can also cause bone marrow suppression, by which the bone marrow does not produce enough red blood cells, and platelets. The use of penicillamine with caution if you have an allergy to penicillin. It also maintains the vitamin B6 (pyridoxine) of work. That means you will need to take a B6 supplement in small doses.
  • Trientine (Cuvrior, Syprine). Another agent chelation of copper called trientine works as penicillamine, but it tends to cause fewer side effects. Still, the nervous system, the symptoms may worsen while taking trientine.
  • Zinc acetate (Galzin). This medication prevents the body from absorbing copper from the food that you eat. It is usually used to stop copper from the building again after treatment with penicillamine or trientine. The acetate of Zinc could be used as the main treatment if you can't take penicillamine or trientine, after completing the therapy to remove the excess copper or if you have no symptoms. The acetate of Zinc can affect your stomach.

Your doctor may also recommend ways to treat other symptoms of Wilson's disease.

Surgery

If the liver damage is severe, you may need a liver transplant. During a liver transplant, the surgeon removes the diseased liver and replaces it with a healthy liver from a donor.

The majority of livers transplanted from donors who have died. Sometimes, a liver can come from a living donor, as a member of the family. In that case, the surgeon removes the diseased liver and replaces it with a portion of the liver of the donor.

Lifestyle and home remedies

If you have Wilson disease, your doctor will probably recommend that you limit the amount of copper in the diet. Also, if you have copper pipes in your home, you may want to test the levels of copper in the tap water. Be sure to stay away from multivitamins that contain copper.

Foods that contain high amounts of copper include:

  • Liver.
  • Seafood.
  • Mushrooms.
  • Nuts.
  • Chocolate.

Ask your health care team for more information on foods that have high amounts of copper.

Preparing for your appointment

It is likely that you first see your family doctor. Then you may be referred to a doctor who specializes in the liver, also known as a hepatologist.

What you can do

When you make the appointment, ask if there is something that you need to make ahead of time, such as changing your diet for the blood tests.

Make a list of:

  • Your symptoms and when they began.
  • Key personal information, including major stresses, other medical conditions you have and any family history of Wilson's disease.
  • All medications, vitamins or supplements that you take, including over-dose.
  • Questions to ask your doctor.

If possible, take a family member or a friend to help you remember the information they give you.

For Wilson's disease, questions to ask your doctor include:

  • What tests do I need?
  • What treatment do you recommend it?
  • What are the side effects of treatment?
  • There are other treatment options?
  • I have these other health conditions. How can I best manage them together?
  • What I need to limit the types of food I can eat?
  • You should see a specialist?
  • Should my family be tested for Wilson's disease?
  • Are there brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask other questions.

What to expect from your doctor

Your doctor may ask you several questions, such as:

  • Do your symptoms occur all the time or only once in a while?
  • How severe are the symptoms?
  • How long have you had these symptoms?
  • What, if anything, it seems to make the symptoms better or worse?
  • Does anyone else in your family have Wilson's disease?
Symptoms and treatment of Wilson's disease