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🧬 Wilson’s Disease in 60 Seconds — Simple Breakdown
Wilson’s disease is a genetic disorder where the body can’t get rid of extra copper, causing it to build up in the liver, brain, and eyes. When untreated, this buildup can become life‑threatening — but with early diagnosis and lifelong treatment, most people live full, healthy lives.

🧠 What It Is
A rare inherited condition where a mutation in the ATP7B gene prevents the liver from removing excess copper.

Copper accumulates in vital organs, especially the liver, brain, and eyes.

Symptoms usually appear between ages 5 and 40, but can occur earlier or later.

👀 Key Symptoms
Liver symptoms: jaundice, fatigue, swelling, abdominal pain

Neurological symptoms: tremors, trouble speaking, coordination issues, mood changes

Eye signs: Kayser‑Fleischer rings — copper‑colored rings around the iris

Other issues: anemia, kidney stones, joint pain

🔍 How It’s Diagnosed
Blood tests for copper and ceruloplasmin levels

24‑hour urine copper test

Eye exam to detect Kayser‑Fleischer rings

Genetic testing for ATP7B mutations

Liver biopsy if results are unclear

💊 Treatment (Lifelong)
Chelating medications that remove copper (penicillamine, trientine)

Zinc therapy to block copper absorption

Low‑copper diet

Liver transplant in severe cases

🤯 The Big Takeaway
Wilson’s disease is serious but treatable. Early detection prevents organ damage, and with lifelong therapy, most people lead normal lives.