Daijiworld Media Network- Mumbai

Mumbai, Apr 10: Copper is essential to human health, supporting key processes like red blood cell formation, immune defense, iron absorption, and brain development. But as vital as this mineral is, too much of it—especially due to a rare genetic disorder called Wilson’s disease—can turn it from helper to hazard.

What is Wilson’s disease?

Wilson’s disease is a rare inherited condition where the body can’t properly eliminate excess copper, leading to dangerous accumulation in organs such as the liver, brain, and eyes. This buildup can cause severe liver damage, neurological symptoms, and even death if left untreated. It affects about 1 in 30,000 people worldwide.

The culprit behind the condition is a mutation in the ATP7B gene, which is responsible for transporting copper out of liver cells and into bile for excretion. When this gene is defective, copper removal is blocked, and the metal begins to accumulate silently over years, until symptoms finally appear—usually between ages 5 and 35.

Because it’s an autosomal recessive disorder, a person must inherit a defective copy of the gene from both parents to develop the disease. Carriers (with only one mutated gene) typically show no symptoms.

Symptoms: from liver to mind

Wilson’s disease symptoms vary widely, depending on which organs are affected:

Liver-related symptoms:

• Fatigue and weakness

• Jaundice (yellowing of skin and eyes)

• Abdominal swelling or pain

• Unexplained bruising or bleeding

• Swelling in legs and feet

• Liver failure in later stages

Neurological and psychiatric signs:

• Tremors, spasms, or uncontrolled movements

• Difficulty speaking or swallowing

• Stiff muscles, poor coordination

• Mood swings, depression, or anxiety

• Memory loss or cognitive difficulties

A hallmark sign is the presence of Kayser-Fleischer rings—greenish-brown rings around the cornea caused by copper deposits, visible under an eye exam

Diagnostic clues & cases from the field

Diagnosis can be tricky, especially if traditional markers like ceruloplasmin (a blood protein that carries copper) appear normal. A neurologist recently reported a case where MRI brain scans showed classic hyperintense changes in the pons, midbrain, and lentiform nuclei, helping confirm Wilson’s disease despite normal ceruloplasmin levels.

Another specialist noted a young patient with neuropsychiatric symptoms and found brain abnormalities typical of Wilson’s—highlighting the importance of considering the disease when such signs appear, especially in youth.

Copper-Rich foods to avoid

Once diagnosed, treatment involves lifelong copper control. That includes avoiding foods high in copper, such as:

• Shellfish

• Liver and other organ meats

• Nuts and seeds

• Chocolate

• Mushrooms

Medications like chelating agents (penicillamine or trientine) help remove copper from the body, while zinc supplements can block copper absorption.

Why awareness matters

Early diagnosis and treatment can prevent life-altering damage. With awareness, regular screenings (especially for those with a family history), and careful management, people with Wilson’s disease can lead full, healthy lives.

In a world where copper is vital, yet potentially deadly, balance is everything.