Wilson disease
Wilson disease is a rare, inherited disorder characterized by the buildup of copper in the body, primarily affecting the liver, brain, and eyes, potentially leading to liver damage and neurological or psychiatric problems if left untreated.
What is Wilson Disease?
- Inherited Disorder: Wilson disease is an autosomal recessive disorder, meaning both parents must carry the gene mutation for their child to inherit the condition.
- Copper Build-up: The body's inability to process and remove excess copper leads to its accumulation in vital organs, including the liver, brain, and eyes.
- ATP7B Gene: The disease is caused by mutations in the ATP7B gene, which is responsible for producing a protein that helps the body excrete copper.
- Organ Damage: Untreated Wilson disease can cause significant damage to the liver, brain, and other organs, potentially leading to life-threatening complications.
Symptoms:
- Liver Problems: Jaundice (yellowing of the skin and eyes), fatigue, loss of appetite, abdominal swelling, and liver damage.
- Neurological and Psychiatric Issues: Clumsiness, tremors, difficulty walking, speech problems, impaired thinking, depression, anxiety, and mood swings.
- Other Symptoms: Kayser-Fleischer rings (a rusty-brown ring around the cornea of the eye), anemia, and bone softening.
Diagnosis:
- Medical and Family History: Doctors will inquire about the patient's medical history and family history of similar conditions.
- Physical Exam: A physical exam, including an eye exam to check for Kayser-Fleischer rings, will be conducted.
- Blood and Urine Tests: These tests help determine copper levels and liver function.
- Liver Biopsy: A liver biopsy may be necessary to assess the extent of liver damage.
- Genetic Testing: Genetic testing can confirm the presence of mutations in the ATP7B gene.
Treatment:
- Chelating Agents: Medications like penicillamine and trientine help remove excess copper from the body.
- Zinc: Zinc therapy can help reduce copper absorption in the gut.
- Liver Transplant: In severe cases, a liver transplant may be necessary to replace the damaged liver with a healthy one.
- Lifelong Treatment: Wilson disease requires lifelong management and regular follow-up with a healthcare professional.
Prognosis:
- Early Diagnosis and Treatment: With early diagnosis and treatment, individuals with Wilson disease can live relatively normal lives.
- Untreated Disease: Untreated Wilson disease can lead to severe liver damage, neurological problems, and even death.