Contents:
- Medical Video: Copperheads 5: The symptoms of Wilson's disease [CC]
- Causes of Wilson's disease
- Symptoms of Wilson's disease
- Symptoms in the liver
- Symptoms of the nervous system
- How to treat Wilson's disease?
- The first stage
- Second stage
- Third phase
- Can you prevent Wilson's disease?
Medical Video: Copperheads 5: The symptoms of Wilson's disease [CC]
Wilson's disease is a hereditary disease that causes copper buildup in body tissues, such as the liver, brain and cornea. This disease, also known as hepatolenticular degeneration, occurs in one in 30,000 to 40,000 people worldwide, so it can be categorized as a rare disease.
Copper plays an important role in the development of nerve, bone, collagen and melanin pigments in the skin. Fulfillment of copper needs can be obtained from foods consumed by a person. In normal cases, the liver filters excess copper and expels it through the bile, which is the fluid made in the liver which is responsible for carrying toxins and body waste through the digestive tract.
In patients with Wilson's disease, the patient's heart fails to properly carry out the copper filtering process. Accumulation of copper in the body can cause damage to body organs that endanger life.
Causes of Wilson's disease
The disease that was first discovered by Dr. Samuel Alexander Kinnier Wilson in 1912 was caused by mutations in genes ATP7B on chromosome number 13 man. This gene plays a role in the control of liver cells to get rid of excess copper in the body. If the copper removal process does not run properly and correctly, there will be a buildup of copper metal in the liver cells. When the storage capacity of liver cells has exceeded the limit, copper will "spill" into the bloodstream and stored in the organs of the body that are passed by the bloodstream. Copper buildup is commonly found in brain organs.
This gene mutation is recessive so that it can only decrease if the patient's parents have a mutation in the gene (gene career).
Symptoms of Wilson's disease
Although this gene mutation occurs from birth, it takes years until the copper buildup in the patient's body reaches a dangerous level. Generally, this buildup process occurs at the age of 6 to 20 years. The signs and symptoms of Wilson's disease vary depending on which organ has copper buildup.
Symptoms in the liver
Some of these symptoms may indicate copper buildup in the liver:
- fatigue
- weight loss
- nausea and vomiting
- loss of appetite
- itchy
- the skin becomes yellowish
- foot and abdominal swelling (edema)
- part of the abdomen that feels painful or bloated
- visible blood vessels in the skin (spider angiomas)
- muscle cramp.
Some symptoms, such as yellow skin and edema almost similar to the symptoms of liver failure or kidney failure, so often this disease is misinterpreted.
Symptoms of the nervous system
Copper accumulation in the brain can cause symptoms such as:
- weakening of memory or vision
- migraine
- abnormal walking method
- insomnia,
- hands become more careless
- personality change
- change mood often
- depression
In severe conditions, the possibility of muscle spasms and pain in the muscles when making certain movements.
In other organs, the possibility of copper accumulation in the body is marked by discoloration of the nails to blue, kidney stones, early bone loss or osteoporosis, arthritis, irregular menstruation, and low blood pressure. In addition, there is brownish pigmentation in the cornea, known as Kayser-Fleischer rings, it can also be used as an indication of this disease in the body.
How to treat Wilson's disease?
The success of Wilson's disease treatment is very dependent on how quickly the treatment is done. Treatment usually consists of three stages and lasts for life. That is, if the patient stops doing treatment, chances are that copper will again accumulate in the body.
The first stage
The initial stage of treatment of this declining disease is removing all excess copper in the body through chelating therapy. Agent chelating includes drugs such as d-penicillamine and tientin or syprine. These drugs will expel excess copper in the organ into the bloodstream. Furthermore, the kidneys will play a role in the process of filtering blood and copper will come out of the body through urine.
However, these types of drugs have side effects, including fever, redness, kidney problems, and bone marrow problems. In pregnant women, drugs chelating this can also cause disability in the process of childbirth. Therefore, consumption of these types of drugs SHOULD under the supervision of a specialist doctor.
Second stage
After the process of removing copper which accumulates in the patient's body, then the stage of guarding copper levels in the body is carried out to remain in normal condition. At this stage, the doctor will usually give the drug in the form of zinc or tetrathiomolibdat. Zinc consumed orally in the form of salt or acetate (Galzin) can protect the body from absorption of copper from food.
Third phase
The third stage of the treatment of Wilson's disease is monitoring copper levels in the body while still undergoing zinc therapy and therapy chelating. Copper levels in the body can be maintained by avoiding foods rich in copper, such as dried fruits, mushrooms, nuts, chocolate, and multivitamins.
Treatment usually lasts for four to six months in patients who experience symptoms of Wilson's disease. If someone does not respond these treatments, a liver transplant is needed. In addition, liver transplants are needed when sufferers experience kirosis and acute liver failure that occurs suddenly.
Can you prevent Wilson's disease?
Given that this disease is declining, this disease can hardly be prevented. Fast diagnosis it is very important to stop or inhibit the buildup of copper in the body. Treatment that is late or not at all will cause liver failure, brain damage, and other health conditions that endanger life and even cause death. Therefore, if you experience the above symptoms, it is better to immediately contact the doctor concerned to do so medical checkup.
