Summary about Disease
Wilson's disease is a rare, inherited disorder that causes copper to accumulate in the body, primarily in the liver, brain, and eyes. This buildup can lead to organ damage and a variety of neurological and psychiatric symptoms. Early diagnosis and treatment are crucial to prevent serious complications.
Symptoms
Symptoms vary widely and depend on the organs affected. Some common symptoms include:
Liver: Fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, swelling, ascites (fluid buildup in the abdomen).
Neurological: Tremors, difficulty speaking or swallowing, muscle stiffness, poor coordination, personality changes, depression, anxiety.
Eyes: Kayser-Fleischer rings (brownish rings around the cornea).
Causes
Wilson's disease is caused by a mutation in the ATP7B gene, which is responsible for producing a protein that helps transport copper out of the liver and into bile. When this gene is defective, copper accumulates in the liver and eventually spills over into other organs. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to develop the disease.
Medicine Used
Medications used to treat Wilson's disease focus on removing excess copper from the body and preventing further accumulation. Common medications include:
Chelating agents:
D-penicillamine: Binds to copper and helps the body eliminate it through urine.
Trientine: Works similarly to D-penicillamine.
Zinc acetate: Blocks the absorption of copper from food.
Is Communicable
No, Wilson's disease is not communicable. It is a genetic disorder that is inherited from parents and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent contracting Wilson's disease as it is a genetic condition. However, if you have a family history of Wilson's disease, genetic counseling and testing are recommended to assess your risk and the risk to your children. People diagnosed with Wilson's disease should adhere to their prescribed treatment plan, which includes medication and dietary restrictions (limiting copper intake).
How long does an outbreak last?
Wilson's disease isn't characterized by outbreaks. It's a chronic condition. Symptoms can develop gradually over time or appear suddenly. Untreated, the condition progresses leading to organ damage and, eventually, death. With proper treatment, the disease can be managed, and symptoms can be controlled. The duration of symptoms depends on the severity of the disease, the time of diagnosis, and the effectiveness of treatment.
How is it diagnosed?
Diagnosis of Wilson's disease typically involves a combination of:
Physical examination: To assess symptoms and look for signs such as Kayser-Fleischer rings.
Blood tests: To measure copper levels in the blood, ceruloplasmin levels (a copper-carrying protein), and liver function.
Urine tests: To measure copper excretion in the urine.
Eye examination: To check for Kayser-Fleischer rings.
Liver biopsy: To measure copper levels in the liver.
Genetic testing: To confirm the presence of the ATP7B gene mutation.
Timeline of Symptoms
The onset and progression of symptoms vary greatly from person to person.
Childhood/Adolescence: Liver problems often appear first, such as fatigue, jaundice, and abdominal pain.
Young Adulthood: Neurological symptoms may emerge, including tremors, difficulty speaking or swallowing, and changes in personality.
Progression (Untreated): Over time, symptoms worsen and can lead to severe liver damage, neurological impairment, and psychiatric problems.
Important Considerations
Early diagnosis is crucial: The earlier Wilson's disease is diagnosed and treated, the better the outcome.
Lifelong treatment is necessary: Treatment is ongoing to prevent copper from accumulating.
Dietary restrictions: Limiting copper intake through diet is important. Avoid foods high in copper, such as liver, shellfish, chocolate, nuts, and mushrooms.
Monitoring: Regular monitoring of liver function, copper levels, and neurological status is necessary to adjust treatment as needed.
Genetic counseling: Family members should be screened for Wilson's disease, especially siblings.