Condition Lookup
Category:
Genetic/Metabolic Neurological Disorders
Number of Conditions: 1
Wilson’s Disease
Specialty: Neurology
Category: Genetic/Metabolic Neurological Disorders
Symptoms:
tremors; difficulty speaking; psychiatric symptoms (e.g., depression, anxiety); liver dysfunction (jaundice, abdominal pain); kayser-fleischer rings in the eyes
Root Cause:
Genetic disorder causing copper accumulation in the liver, brain, and other organs due to defective copper excretion.
How it's Diagnosed: videos
Blood and urine tests for copper levels, liver function tests, slit-lamp examination for Kayser-Fleischer rings, and genetic testing.
Treatment:
Lifelong copper-chelation therapy, dietary copper restriction, and liver transplantation in advanced liver failure cases.
Medications:
Penicillamine or trientine (copper-chelating agents) to remove excess copper; zinc acetate to block copper absorption in the intestines.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 people worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; family history of Wilson’s disease.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early diagnosis and adherence to treatment; untreated cases can result in liver failure, severe neurological damage, or death.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver cirrhosis, neurological impairment, psychiatric disorders, and fatal organ damage.