Graham disease is a rare, genetic disorder that affects the liver. It's characterized by a buildup of copper in the liver, leading to inflammation and damage. This condition is also known as Wilson's disease.
Causes of Graham Disease
Graham disease is caused by a mutation in the ATP7B gene. This gene provides instructions for making a protein that helps transport copper out of the liver. When this gene is mutated, the protein doesn't function properly, leading to copper accumulation in the liver.
Symptoms of Graham Disease
Symptoms of Graham disease can vary depending on the severity of the condition. Some common symptoms include:
- Liver problems: Fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, swelling in the legs and feet
- Neurological problems: Tremors, muscle stiffness, difficulty speaking, changes in behavior
- Psychiatric problems: Depression, anxiety, psychosis
Diagnosis of Graham Disease
Diagnosing Graham disease involves a combination of tests:
- Blood tests: To measure copper levels in the blood
- Urine tests: To measure copper levels in the urine
- Liver biopsy: To examine a sample of liver tissue for signs of copper buildup
- Genetic testing: To confirm the presence of a mutation in the ATP7B gene
Treatment of Graham Disease
Treatment for Graham disease aims to reduce copper levels in the body and prevent further liver damage. Treatment options include:
- Medications: Chelating agents like penicillamine or trientine bind to copper and help remove it from the body.
- Dietary changes: Limiting copper intake through food and supplements.
- Liver transplant: In severe cases, a liver transplant may be necessary.
Living with Graham Disease
With proper treatment, people with Graham disease can live long and healthy lives. It's important to follow your doctor's recommendations for medication and diet. Regular monitoring of liver function is also essential.
