Symptoms
Symptoms vary widely among affected individuals and depend on which organs are primarily affected. They can include:
Liver-related: Fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, swelling of the legs and abdomen.
Neurological: Tremors, difficulty speaking or swallowing, muscle stiffness, poor coordination, personality changes, depression, anxiety.
Psychiatric: Behavioral changes, psychosis.
Other: Kayser-Fleischer rings (brownish rings around the cornea of the eye), anemia, kidney problems, arthritis.
Causes
Wilson disease is caused by a mutation in the ATP7B gene. This gene provides instructions for making a protein that transports copper out of the liver and into bile for excretion. When the ATP7B gene is mutated, copper builds up in the liver and eventually spills over into other organs. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
Medicine Used
Medications aim to reduce copper levels in the body and prevent its further accumulation. Common medications include:
Chelating agents: These drugs bind to copper and help the body eliminate it through urine. Examples include penicillamine and trientine.
Zinc: Zinc blocks the absorption of copper from food in the gastrointestinal tract.
Liver transplantation: In severe cases of liver failure, a liver transplant may be necessary.
Is Communicable
No, Wilson disease is not communicable. It is a genetic disorder and cannot be spread from person to person through contact, air, or any other means.
Precautions
Since Wilson disease is genetic, there are no general precautions to prevent contracting it. However, for individuals diagnosed with the disease:
Adherence to medication: Strict adherence to prescribed medication is crucial for managing copper levels.
Dietary considerations: Limiting copper intake through diet is often recommended (avoiding high-copper foods like shellfish, liver, nuts, and chocolate).
Regular monitoring: Regular check-ups with a healthcare provider are necessary to monitor copper levels and assess the effectiveness of treatment.
Genetic counseling: Genetic counseling is recommended for families with a history of Wilson disease to understand the risk of inheritance and options for testing.
How long does an outbreak last?
Wilson disease is not an "outbreak" type of disease. It is a chronic, progressive condition. Symptoms may develop gradually over time, or there may be periods of worsening symptoms followed by periods of relative stability with treatment. Without treatment, the disease progresses continuously.
How is it diagnosed?
Diagnosis typically involves a combination of:
Physical examination and medical history: Assessing symptoms and family history.
Blood tests: Measuring ceruloplasmin levels (a copper-carrying protein), serum copper, and liver function tests.
Urine tests: Measuring 24-hour urine copper excretion.
Eye examination: Looking for Kayser-Fleischer rings.
Liver biopsy: Analyzing a sample of liver tissue to assess copper levels and liver damage.
Genetic testing: Identifying mutations in the ATP7B gene.
Timeline of Symptoms
The timeline of symptoms can vary greatly.
Childhood/Adolescence: Often presents with liver-related symptoms (fatigue, jaundice)
Young Adulthood: More likely to present with Neurological or psychiatric symptoms
Progression: Without treatment, liver disease can progress to cirrhosis and liver failure. Neurological symptoms can worsen, leading to significant disability. Psychiatric symptoms may also become more severe.
Important Considerations
Early Diagnosis: Early diagnosis and treatment are essential for preventing irreversible organ damage.
Lifelong Management: Wilson disease requires lifelong treatment and monitoring.
Genetic Counseling: Family members should be screened for the disease, especially siblings.
Medication Side Effects: Be aware of the potential side effects of medications used to treat Wilson disease and report any concerns to a healthcare provider.
Support Groups: Support groups can provide emotional support and practical advice for individuals and families affected by Wilson disease.