Symptoms of Wilson's disease

**Copper mineral** Copper is a heavy metal and an essential mineral that supports the following functions: - Metabolizing iron - Formation of enzymes that produce energy. - Construction of connective tissue - Creation of new blood vessels - The balance of hormones that make nerve cells. - Regulation of gene expression - Improving the healthy functioning of the immune system Although many plant and animal food sources naturally contain copper, the human body stores only about 50 to 120 mg of this mineral. The human body is able to excrete excess copper in bile, which is a digestive fluid produced by the liver. The normal concentration of copper in a healthy human body ranges from 63.5 to 158.9 micrograms per deciliter of blood. A doctor can check a person's copper level through a blood test.

**What is Wilson's disease?** The human body needs a small amount to produce energy and for blood vessels and connective tissues. This mineral helps to maintain the immune system and the central nervous system. But too much copper can be harmful to a person's health. A large amount of copper causes damage to the tissues of the body, and these organs lose their ability to function properly. Normally, the liver releases excess copper into the bile, and the bile removes the copper from the body through the digestive system. In Wilson's disease, the liver does not release enough copper into the bile. As a result, the person suffers from symptoms of copper poisoning. If left untreated, Wilson's disease can be fatal. **Cause of Wilson's disease** Wilson's disease is a genetic and autosomal recessive disease that the patient inherits from his parents. If both parents are carriers of the mutated ATP7B gene, the cause of Wilson's disease, they will pass this gene on to their children. The name of this disease is chosen in honor of Professor Wilson who discovered it.

**Symptoms of Wilson's disease** A person may be born with Wilson's disease, but may not show any symptoms until their copper levels reach high levels. Symptoms of Wilson's disease usually appear for the first time between the ages of 5 and 40. Of course, it is possible to see it when the person is only 9 months old or even at the age of 70. In some cases, no symptoms may be observed before the disease is diagnosed by a specialist. Urinary excretion is negligible. It is estimated that patients suffering from this disease may receive up to 1 mg of copper per day due to impaired excretion of copper through bile. Accumulation of copper begins at birth, but patients are usually asymptomatic for the first one to two decades of life. Over time, copper-related tissue damage leads to signs and symptoms of liver failure, extrapyramidal syndromes, or behavioral problems. Copper is also deposited in the cornea. Of course, it does not impair vision. Finally, if Wilson's disease is not treated, continued accumulation of copper may lead to death from progressive liver failure or complications of severe neurological disability. A person with this disease may show many symptoms. Wilson's disease affects the liver, nervous system, brain, eyes, or other organs. - ### **liver symptoms** Wilson's disease may lead to liver disease in some people, with symptoms such as jaundice, liver pain, dark urine, pale stools, fatigue, nausea, and vomiting. In some people, suffering from chronic liver disease and complications of cirrhosis may be accompanied by symptoms such as weakness and fatigue, abnormal weight loss, abdominal bloating due to fluid accumulation, lower limb swelling, jaundice, skin itching and neurological problems. - ### **nervous symptoms** One of the symptoms that occur as a result of high levels of copper in a person is neurological problems. In about 40-50% of people with Wilson's disease, the first symptoms are usually related to the central nervous system. These symptoms include tremors, problems with physical coordination, speech, and swallowing, and muscle stiffness. Of course, symptoms such as anxiety, depression, changes in a person's behavior and personality may also be observed. - ### **Symptoms related to the eyes** Accumulation of copper in the eyes of a patient may cause the appearance of a ring around the cornea. These rings, known as Kayser-Fleischer rings, may be green, gold, or brown in color. In people with Kayser-Fleischer rings, approximately 95% have neurological symptoms and 65% have hepatic symptoms.

**Resources containing copper** Copper is present in food, air and water. - **Copper in food** Many foods naturally contain copper. Examples of copper-rich foods include: - Animal meat, such as beef and turkey - Organ meats such as liver and offal - Cereals, such as millet and cereals - Vegetables, such as spinach, asparagus and tomatoes - Dairy products such as milk and yogurt - Seeds, nuts and legumes - Potatoes - Mushroom - Raw avocado - Chocolate People eat about 1 mg of copper per day or get it through drinks. The body effectively prevents high levels of this substance from entering the bloodstream. However, if a person eats food served or prepared in copper containers, he may experience an increase in copper in his body. Treatment of Wilson's disease should be continued throughout the person's life, because stopping treatment means re-accumulation of copper. During the initial treatment, a person should avoid foods that are rich in copper. Chocolate, liver, mushrooms, nuts, dried fruit and foods containing whole wheat are rich in copper. The recommended dietary allowance for copper ranges from 340 to 890 micrograms per day for children 18 years of age or younger and 900 micrograms per day for adults. Adults should not consume more than 10 mg of copper per day. Excessive amounts of this metal can lead to adverse effects on a person's health. - ### **Copper in water** Water taps in developed countries are made of copper. Water passing through copper pipes or brass faucets can pick up copper particles, especially if these parts are corroded. Agricultural and industrial wastes can also flow into public reservoirs and contaminate drinking water. If the tap is left unused for six hours or more, at least 15 seconds should be run from each tap to reduce the amount of copper. The copper in the water, which enters the water through copper pipes, can be harmful to the patient with Wilson's disease. - ### **Copper in the air** There is a small amount of copper in the air. On average, air contains 1 to 200 nanograms of metal per cubic meter of air. However, the concentration of copper in areas close to copper smelters and industrial mines may reach 5000 ng/m3. People who are engaged in agricultural work or work in water treatment centers and mining industries may inhale copper particles and smoke during the working day. The concentration of copper dust in the air of the working room should not exceed 1 mg/m3 during an 8-hour work shift.

**Complications of Wilson's disease** Wilson's disease may be associated with complications such as acute liver failure, liver cirrhosis, concussion, hemolytic anemia, arthritis, osteoporosis, kidney stones. **Wilson's diagnosis method** A specialist doctor can diagnose Wilson's disease based on a person's medical history and diagnostic tests. If there is a family history of Wilson's disease, knowing this information can help diagnose the disease faster. To diagnose Wilson's disease, the following tests may be done: - Eye examination for the possible observation of Kayser-Fleischer rings - Physical examination to check changes in the skin, liver enlargement, swelling in the abdomen and lower limbs, and jaundice - Performing a urine test to check the amount of copper in the urine - Liver biopsy to check liver damage and determine the amount of copper in the tissue - MRI scan and CT scan if a person has neurological symptoms. Blood tests may also be done to check for the following: - Checking ceruloplasmin level: It is a protein that carries copper in the blood. - Check copper levels - Examination of liver enzymes called alanine transaminase and aspartate transaminase - For red blood cells to look for anemia **Methods to prevent Wilson's disease** Since Wilson's disease is a genetic disease, nothing can be done to prevent it. However, if diagnosed and treated in time, one can prevent any damage from occurring. Because there are approximately 300 different mutations in the affected gene and there is no way to screen for the disease in the general population, it is important for close relatives of people with Wilson's disease to get tested because they themselves are at risk of developing it. Early diagnosis of Wilson's disease can reduce or prevent damage to various organs of the body. If a person is not treated, it can lead to the following: - Liver failure - Severe brain damage - death **Wilson's disease treatment method** Treatment of Wilson's disease should continue throughout the person's life. The following are usually done to treat this disease. - Taking copper chelating drugs, which help the organs and tissues of the patient's body to eliminate excess copper. - Reducing the amount of copper received through food. - Taking zinc supplements because zinc prevents the absorption of copper in the body. - Getting extra vitamin B6 - Treatment of any damage to the liver or central nervous system - Taking medicines to treat various symptoms such as muscle problems - Liver transplant, if a person experiences severe liver damage. **Can complications occur?** Wilson's disease can lead to various liver-related problems such as liver damage, hepatitis, cirrhosis, and liver failure. It is also possible that a person has a disorder in the nervous system and shows symptoms related to this disorder. There is also the possibility of brain damage. **When did he call the doctor?** If a person finds out that a close relative has Wilson's disease, they should ask their doctor to perform the relevant tests. If a person thinks they are showing symptoms of Wilson's disease, liver failure, or neurological symptoms, they should also contact their doctor. **The last word is...** Wilson's disease is a rare autosomal recessive genetic disorder that results in the accumulation of high levels of copper in the body. It is caused by a mutation in the ATP7B gene and can affect a person's tissues, organs and systems, including the liver, central nervous system and eyes. Early diagnosis and timely treatment are important in reducing and preventing any damage that occurs. You can contact us for more information and advice. Stay in touch with us

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