Understanding Wilson's Disease
Wilson’s disease is a rare inherited disorder that causes copper to accumulate in your liver, brain, and other vital organs.
Key Fact: Copper is essential for health, but in Wilson's disease, the body cannot eliminate excess copper, leading to life-threatening levels.
Common Symptoms
Kayser-Fleischer Rings
A golden-brown discoloration in the eyes around the cornea.
Jaundice
Yellowing of the skin and eyes as liver damage progresses.
Incoordination
Problems with speech, swallowing, or physical coordination.
Abdominal Swelling
Fluid buildup (ascites) and swelling in the legs due to liver failure.
Risk Factors
- Family history (it is an autosomal recessive disorder)
- Both parents must carry the defective gene
Diagnosis & Treatment
Diagnosis
Diagnosis involves checking copper levels in blood, urine, and sometimes the liver.
Serum Ceruloplasmin Test
24-hour Urine Copper Test
Eye Exam (Slit-lamp)
Liver Biopsy
Common Treatments
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Chelating Agents: Medications like penicillamine that help the body release copper into the urine.
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Zinc Acetate: Used as maintenance therapy to prevent the body from absorbing copper from food.
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Low-copper Diet: Avoiding foods high in copper like organ meats, shellfish, and mushrooms.