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The hidden crisis of the liver: How does Wilson disease affect our health?
Wilson disease, also known as hepatic encephalopathy, is an inherited disorder characterized by excessive accumulation of copper in the body. The disease affects mainly the brain and liver, and initial symptoms may not be obvious and may be confused with many other health problems. As time goes by, the health risks these symptoms may cause become more and more apparent, making early diagnosis and treatment critical for people with the condition.
Symptoms of Wilson disease are usually related to the nervous system and liver, including vomiting, fatigue, leg swelling, yellow skin, etc. These hallmark symptoms are crucial for the early diagnosis of the disease.
What is Wilson disease?
Wilson disease is caused by a mutation in the ATP7B gene, which is responsible for transporting excess copper into bile and excreted from the body with waste. The condition is inherited in an autosomal recessive manner, so an affected person must inherit the mutated gene from two parents. Wilson disease affects about 1 in 30,000 people and usually develops between the ages of 5 and 35.
Diagnosing Wilson disease
Diagnosing Wilson disease can be difficult and usually requires a combination of blood tests, urine tests, and a liver biopsy. Your doctor may try to look for key markers, such as levels of copper and ceruloplasmin in your blood serum. In general, people with Wilson's disease often have low serum copper levels and significantly elevated urine copper levels.
Symptoms of Wilson's diseaseIn the diagnosis of Wilson disease, 93% of cases can be preliminarily diagnosed through tests such as copper and copper enzyme binding protein in the blood.
Liver-related symptoms
Liver effects may cause problems such as weakness, jaundice, fluid accumulation in the abdomen, and swelling of the limbs. Disease conditions in the liver may cause hepatic encephalopathy, a dangerous condition that can lead to confusion, coma, and seizures due to impaired liver function.
Neuropsychiatric symptoms
About half of people with Wilson disease develop neurological or psychiatric symptoms, which usually begin as mild cognitive decline and clumsiness. Later, Parkinson's disease-like symptoms may develop, including muscle stiffness, slowed movements, and imbalance.
These neuropsychiatric symptoms have a significant impact on patients' behavior and emotions, and may lead to problems such as anxiety and depression.
Treatment methods
Treatment of Wilson disease usually involves dietary changes and medications. A low-copper diet can help reduce copper accumulation in the body and certain foods should be avoided, such as mushrooms, nuts, and seafood. Meanwhile, in terms of medication, drugs such as penicillamine and trimethoprim-sulfamethoxazole are often used to remove excess copper from the body.
The future of Wilson diseaseWell-responding treatment and management can effectively reduce the risk of liver and kidney problems and improve the patient's quality of life.
Correct diagnosis and timely treatment are crucial for patients with Wilson disease. With the advancement of medical technology, treatment options for Wilson disease will become more diverse in the future. Researchers are also seeking new therapies to improve outcomes for patients, especially in those difficult-to-treat conditions.
The hidden crisis of Wilson's disease is hidden in every corner of life. How should we deepen our knowledge and understanding of this disease in the future to better prevent and treat it?
