What is Wilson’s Disease? Symptoms and Treatment
Wilson disease, also referred to as hepatolenticular degeneration, is a rare genetic disorder of copper metabolism. It affects approximately 1 in 30,000 people in the world. In a healthy body, the liver filters excess copper and ensures that copper is removed from the body. In individuals with Wilson disease, the liver cannot fully perform this function. Increased copper levels; 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 medication or liver transplantation. One should be aware that delaying diagnosis and treatment may result in liver failure, brain damage or other life-threatening situations. You can find answers to questions such as what does Wilson disease mean, what are the causes of Wilson disease and what are the diagnostic criteria for Wilson disease in the rest of the article.
What is Wilson’s Disease?
Wilson’s disease is an autosomal recessive (transmitted by recessive body genes) disease characterized by excessive copper accumulation in the body. Although this disorder 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 in individuals as a result of neurological effects.
Mutation in the ATP7B gene is responsible for Wilson’s disease. The occurrence of this disease is possible when the individual receives this mutated recessive gene from both his mother and father. Various methods such as blood tests, urine analysis and liver biopsy are used in the diagnosis of Wilson disease. Genetic tests are also used for diagnostic purposes if there are other affected members in the family.
The region where the genetic defect is located is the long arm of chromosome 13. The protein produced by the gene in this region is responsible for regulating copper transport in the body. The majority of individuals with Wilson’s disease may develop liver problems within the first 10 years of life. Neuropsychiatric symptoms usually appear between the ages of 30 and 40. Care should be taken as 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 for the disease to occur, individuals must inherit the faulty gene region from both parents. People with only one mutation do not become ill themselves, but they are carriers for this disorder. Therefore, there is still a possibility that this disease, which is not seen in them, will occur in their children.
The genetic mechanism underlying Wilson disease is some mutations in the ATP7B gene region located on chromosome 13. The carrier protein encoded in this region ensures that 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 disease. The complaints that arise 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 by physicians’ suspicion and various diagnostic tests.
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
- bloating in the abdomen
- Spider-looking vein formations
- muscle cramps
Complaints such as jaundice and edema are among the symptoms that may also occur in cases of liver and kidney failure.
Apart from the liver, excessive copper accumulation may also occur in the central nervous system structures of some people. Although this condition generally affects elderly individuals, it should not be forgotten that it can also be seen in children. The first symptoms that occur in approximately 40% of individuals with Wilson disease may be neurological complaints. The symptoms that may occur with copper accumulation in the brain can be summarized as follows:
- Problems with memory, speech and vision
- walking disorder
- Migraine
- drooling
- Sleeping disorders
- Decreased manual dexterity, clumsiness
- personality changes
- Depression
- Problems with education
In the later stages of the disease, in addition to these symptoms, complaints such as muscle spasm, seizures and muscle pain with movement may be added to the disease picture.
Various structures such as rings and cataracts may form after copper accumulation in the eyes, which are among the organs frequently affected by Wilson’s disease. This condition, called the Kayser-Fleischer ring, is a finding that occurs in approximately 95% of patients with neurological symptoms and in almost 65% of people with liver symptoms. Kayser-Fleischer rings are abnormal yellow-brown ring discolorations caused by excessive copper accumulation on the eye. Sunflower cataract development occurs in 1 in 5 Wilson patients. This abnormal structure, which can be seen in highly variable colors in the center, extends radially towards the outer parts of the eye.
In addition to liver, brain and eye symptoms, there are various signs and symptoms that may occur with copper accumulation in other organs:
- Blue discoloration in nails
- Kidney stone
- Early onset osteoporosis or decrease in bone density
- joint inflammations
- Irregular period
- low blood pressure
How is Wilson’s Disease Diagnosed?
Diagnosing Wilson’s disease is a difficult issue because 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 complaints with Wilson’s disease.
If physicians suspect Wilson’s disease, they can benefit from various biochemical and radiological tests:
- Blood and Urine Examinations: Biochemical blood analyzes can evaluate liver functions and examine ceruloplasmin levels, known as copper protein, in the body. The amount of copper in the body is another parameter that is basically examined. Apart from blood, copper can also be examined through urine tests, and thus it can be determined how much copper is excreted in the urine in 24 hours.
If the presence of Wilson disease is highly suspected, 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 patients. In Wilson’s disease, urinary copper excretion may exceed 100 micrograms/deciliter. Copper levels exceeding 250 micrograms per gram of liver tissue is another parameter considered positive for Wilson’s disease.
- Eye Examination: In ophthalmic examinations performed using a microscope and high-sensitivity light, the presence of conditions such as Kayser-Fleischer ring and sunflower cataract, which occur due to excessive copper accumulation in the eye, can be detected.
- Liver Biopsy: A small piece of tissue can be removed from the liver with a thin needle and the copper accumulated in this tissue can be examined.
- Genetic Tests: The presence of genetic abnormalities that may cause the development of Wilson disease can be investigated through blood analysis. Knowing the presence of these mutations in other family members is important in planning screening studies in future generations.
How is Wilson’s Disease Treated?
The basic treatment approach to Wilson’s disease is to retain and remove excess copper from the body by chelation. The treatment period for Wilson’s disease is lifelong with existing medications used until a new treatment method is found. Drugs containing the active ingredients penicillamine and trientine constitute the medical agents used for this purpose. Penicillamine is a drug with very serious side effects. Kidney and skin problems, bone marrow suppression and worsening of neurological symptoms are among the main side effects that may occur. The use of trientine causes fewer side effects than penicillamine. However, some individuals may experience worsening of neurological symptoms after using this drug.
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 dietary copper, can be used to prevent copper accumulation after chelation therapy.
Liver transplantation may be considered in people with significant liver damage. During the transplant, the surgeon removes the patient’s liver and transplants healthy liver tissue.
In addition to the treatment methods used, Wilson patients are recommended to stay away from copper-containing foods such as mushrooms, chocolate, hazelnuts, dried fruits, liver meat and shellfish.
