What is Wilson's Disease? Symptoms and Treatment

Wilson's disease, also referred to as hepatolenticular degeneration, is a rare genetic disorder of copper metabolism. It affects about 1 in 30,000 people worldwide. In a healthy body, the liver filters excess copper and ensures that copper is removed from the body. In individuals with Wilson's disease, the liver cannot fully perform this function. Increased level of copper; It can accumulate in various organs such as the brain, liver, and eyes. Preventing the progression of the disease is only possible with early diagnosis. The treatment method to be applied may be drug therapy or liver transplantation. Delaying diagnosis and treatment should be conscious as it may result in liver failure, brain damage or other life-threatening conditions. You can find answers to questions such as what is Wilson's disease, what are the causes of Wilson's disease and what are the diagnostic criteria for Wilson's disease, in the continuation of the article. It is a recessive (transmitted by recessive body genes) disease. Although this condition mainly targets the brain and liver, many other tissues of the body can also be damaged during the course of the disease. Symptoms resulting from Wilson's disease may vary depending on the organ involved. Liver-related symptoms; symptoms such as nausea, weakness, ascites (fluid accumulation in the abdomen), leg edema, jaundice and itching. Tremors, muscle stiffness, speech difficulties, personality changes, anxiety and hallucinations are among the complaints that may occur as a result of neurological effects in individuals. Mutation in the ATP7B gene is responsible for Wilson's disease. The occurrence of this disease is possible if the individual inherits this mutated recessive gene from both his parents. Various methods such as blood tests, urine analysis and liver biopsy are used in the diagnosis of Wilson's disease. In the presence of other affected individuals in the family, genetic tests are also used for diagnostic purposes. The site of the genetic defect is the long arm of the 13th chromosome. The protein produced by the gene in this region is responsible for the regulation of copper transport in the body. The vast majority of individuals with Wilson's disease are in the first year of life. It may show liver problems within 0 year. Neuropsychiatric symptoms usually appear between the ages of 30-40. Care should be taken because this rare disease can be fatal if the diagnosis is missed and appropriate treatment is not given.

What Causes Wilson's Disease?

Wilson's disease is a genetically transmitted and autosomal recessive disorder. These terms mean that individuals must inherit the faulty gene region from both parents for the disease to occur. People with only one piece mutation do not get sick themselves, but are carriers for this disorder. Therefore, the possibility of this disease, which is not seen in them, continues to occur in their children. The genetic mechanism underlying Wilson's disease is some mutations in the ATP7B gene region located on the 13th chromosome. The carrier protein encoded in this region ensures that the extra copper in the body is excreted with bile. Therefore, the first area where extra copper accumulates in the body is the liver. The extra copper here can then pass into the bloodstream and reach extremely high levels in other organs.

What are the Symptoms of Wilson's Disease?

There are many signs and symptoms that develop as a result of Wilson's disease. The resulting complaints vary depending on which organ is affected by the disease. Wilson's disease, which can be confused with many other disorders due to such various symptoms, can only be detected through the suspicion of physicians and various diagnostic tests.
The symptoms that may occur after copper accumulation in the liver can be summarized as follows:

• Weakness
• Feeling tired
• Weight loss
• Nausea, vomiting
• Loss of appetite
• Itching
• Jaundice
• Edema in the legs and abdomen
• Swelling in the abdomen
• Spider-like vein formations
• Muscle cramps

These symptoms include jaundice and edema Complaints such as liver and kidney failure are among the symptoms that may occur in the tables. In addition to the liver, excessive copper accumulation may occur in the central nervous system structures of some people. It should be kept in mind that although this condition usually affects elderly individuals, it can also be seen in children. Wilson is sick The first symptoms, which occur in approximately 40% of individuals with migraine, may be neurological complaints. Symptoms that may occur with copper accumulation in the brain can be summarized as follows:

• Problems with memory, speech and vision
• Walking disorder
• Migraines
• Salivation
• Sleep disorders
• Decreased dexterity, clumsiness
• Personality changes
• Depression
• Problems with education

In addition to these symptoms in the later stages of the disease, complaints such as muscle spasm, seizures and muscle pain with movement can be added to the disease table. Various structures such as rings and cataracts after copper accumulation in the eyes, which are among the organs frequently affected by Wilson's disease may occur. This condition, called Kayser-Fleischer ring, is a finding that occurs in approximately 95% of patients with neurological signs and in almost 65% of people with liver symptoms. Kayser-Fleischer rings are abnormal yellow-brown annular discoloration caused by excessive copper deposition on the eye. Sunflower cataract development occurs in 1 out of every 5 Wilson's patients. This abnormal structure, which can be seen in highly variable colors in the center, makes radial extensions towards the outer parts of the eye. In addition to the liver, brain and eye symptoms, there are various signs and symptoms that may occur with copper deposition in other organs:

• Blue color change in the nails
• Kidney stones
• Early onset of osteoporosis or decreased bone density
• Joint inflammations
• menstrual irregularity
• Blood pressure low

How is the Diagnosis of Wilson's Disease?

Diagnosis of Wilson's disease is a difficult issue since the symptoms that occur during the course of the disease are similar to the complaints in many diseases. At the same time, the variability of the symptoms during the course of the disease may make it difficult to associate the symptoms with Wilson's disease.
Physicians can benefit from various biochemical and radiological tests if they suspect Wilson's disease:

• Blood and Urine Tests: Biochemical blood analyzes liver function It can provide the evaluation of the blood and the levels of ceruloplasmin, which is known as the copper protein in the body. The amount of copper in the body is another parameter that is basically studied. Apart from blood, copper can also be examined through urine tests, and thus how much copper is excreted in the urine in 24 hours.

In case of high suspicion of Wilson's disease, the ceruloplasmin level should be examined. This protein, whose normal level varies between 20-40 milligrams per deciliter of blood, is detected below these values ​​in Wilson's patients. In Wilson's disease, urinary copper excretion can be over 100 micrograms/deciliter. Copper levels above 250 micrograms per 1 gram of liver tissue is another parameter considered positive for Wilson's disease.

• Eye Examination: In ophthalmic examinations performed with a microscope and high-sensitivity light, the presence of conditions such as Kayser-Fleischer ring and sunflower cataract, which are caused by excessive copper accumulation in the eye, can be detected.
• Liver Biopsy: By taking a small piece of tissue from the liver with a fine needle, copper accumulated in this tissue can be examined. existence can be investigated. Knowing the presence of these mutations in other family members is important in terms of planning future generations of screening studies.

How is the Treatment for Wilson's Disease?

The basic treatment approach to Wilson's disease It is to keep the excess copper in the body by chelation method and to ensure that it is removed from the body. The treatment period for Wilson's disease is lifelong with the current drugs used until a new treatment method is found. Drugs with penicillamine and trientine active ingredients constitute the medical agents used for this purpose. Penicillamine is a drug with very serious side effects. Kidney and skin problems, suppression of bone marrow and worsening of neurological symptoms are among the side effects that may occur. Less side effects occur with the use of Trientine than penicillamine. However, in some individuals, the use of this drug � Afterwards, worsening of neurological symptoms may occur. Zinc-containing drugs are another group of drugs used within the scope of Wilson's treatment. These drugs, which inhibit the body's ability to absorb copper from food, can be used to prevent copper accumulation after chelation therapy. Liver transplantation may be considered in people with severe liver damage. During the transplant, the surgeon removes the patient's liver and transplants the healthy liver tissue. In addition to the treatment methods applied to Wilson's patients, it is recommended to stay away from foods such as mushrooms, chocolate, nuts, dried fruits, liver meat and shellfish containing copper.

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