Wilson's disease, also known as hepatolenticular degeneration, is a rare autosomal recessive inherited disorder that affects copper metabolism in the human body. This disease is named after British neurologist Samuel Alexander Kinnier Wilson, who first described its symptoms in 1912. It is characterized by an excessive accumulation of copper in various tissues of the body, which can cause a wide range of symptoms and health problems. if not properly diagnosed and treated.
Symptoms of Wilson's Disease
The symptoms of Wilson's disease can vary significantly from from person to person, and the severity of the condition can also be highly variable. Some individuals present mild symptoms that may go unnoticed for a long time, while in other cases the disease may be more disabling. Below are some of the most common signs and symptoms associated with Wilson's disease:
Neurological symptoms:
- Tremors
- Muscle stiffness
- Difficulty speaking or swallowing
- Coordination and balance problems
- Seizures
Liver symptoms:
- Hepatomegaly (enlarged liver)
- Jaundice (yellowing of the skin and eyes)
- Ascites (accumulation of fluid in the abdominal cavity)
- Liver hemorrhages
Other symptoms:
- Kayser-Fleischer rings (greenish-brown rings around the cornea)
- Kidney problems
- Amenorrhea in women
- Personality and behavior alterations
It is important to keep in mind that some of these Symptoms can manifest in advanced stages of the disease, so early diagnosis is crucial for effective treatment.
Causes of Wilson's Disease
Wilson's disease is caused by mutations in the ATP7B gene, which encodes a protein responsible for transporting copper from cells. These genetic mutations affect the body's ability to properly process and eliminate copper, leading to its progressive accumulation in the liver, brain and other organs. Transmission of the disease follows an autosomal recessive pattern, meaning that both parents must pass on a mutated copy of the gene for the individual to develop the disease.
Diagnosis of Wilson's Disease
Diagnosis of Wilson's disease can be challenging due to the variability of its symptoms and it is often confused with other liver or neurological diseases. However, there are specific tests that can help confirm the diagnosis, including:
Laboratory tests:
- Measurement of copper levels in the blood and urine
- Genetic testing to detect mutations in the ATP7B gene
Imaging tests:
- MRI of the brain and liver
- Abdominal ultrasound to evaluate liver function
Ophthalmological examination:
The presence of Kayser-Fleischer rings on ocular examination may be a sign revealing copper accumulation in the body.
It is essential to make an early diagnosis to avoid serious complications, so it is recommended to consult a specialist in hepatology or neurology if Wilson's disease is suspected.
Treatment of Wilson's Disease
The main objective of the treatment of Wilson's disease is to reduce the amount of copper in the body and prevent damage to the affected organs. Below are the main therapeutic strategies used in the management of this disease:
Copper chelators:
Copper chelators, such as penicillamine and trientine, are drugs that They are used to increase the excretion of copper through urine. These medications are effective in controlling copper levels in the body and preventing liver and neurological damage.
Low copper diet:
In some cases, it is recommended to follow a low copper diet. in copper to limit the ingestion of this mineral through food. This can help reduce the accumulation of copper in the body and improve the response to treatment with chelators.
Liver transplant:
In cases of advanced liver disease or fulminant liver failure, the Liver transplant may be the only option to save the patient's life. This surgical procedure involves replacing the damaged liver with a healthy organ from a compatible donor.
Long-term follow-up:
Treatment of Wilson's disease is chronic and requires follow-up continuous medical care to evaluate the effectiveness of therapies and monitor disease progression. It is important that patients follow the instructions of their health team and perform the recommended follow-up tests.
Conclusion
Wilson's disease is a rare genetic disorder that affects metabolism of copper in the body, causing a toxic accumulation of this mineral in various organs. The symptoms of this disease can be varied and its diagnosis can be complicated, but with adequate treatment it is possible to control its effects and improve the quality of life of affected patients.
Early detection and multidisciplinary management of Wilson's disease are essential to prevent serious complications and improve the prognosis of patients. Consulting specialists in hepatology, neurology and genetics can be of great help in establishing a personalized treatment plan and optimizing long-term results.