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What is Copper Disease?

Published in Genetic Disorder 2 mins read

Copper disease, more accurately referred to as Wilson disease, is a rare inherited disorder where the body cannot properly remove excess copper. This leads to a buildup of copper, primarily in the liver, which then damages various organs, including the brain and eyes. The buildup of copper is a result of a genetic defect.

Understanding Wilson Disease

Here’s a detailed breakdown of Wilson disease:

The Problem: Copper Accumulation

  • Normal Copper Processing: Normally, your body uses copper for various functions and excretes any excess.
  • Wilson Disease: In Wilson disease, the body loses its ability to effectively process copper, leading to its accumulation. The gene involved in copper processing does not work properly.
  • Liver Damage: The liver becomes the primary site for copper buildup, causing damage and potentially leading to liver failure.
  • Other Organ Damage: Copper collects in other organs as well including the brain and eyes.

Impact on Organs

Here is how the build up of copper can impact organs:

Organ Impact
Liver Damage, inflammation, cirrhosis, and liver failure
Brain Neurological issues, such as tremors, difficulty speaking, and personality changes
Eyes Kayser-Fleischer rings (copper deposits visible in the cornea)

Symptoms of Wilson Disease

Symptoms can vary widely and may include:

  • Jaundice (yellowing of the skin and eyes)
  • Fatigue
  • Abdominal swelling
  • Muscle stiffness or tremors
  • Speech and swallowing problems
  • Personality changes or mood swings
  • Kayser-Fleischer rings (brownish rings around the iris of the eye)

Diagnosis and Treatment

Early diagnosis and treatment are vital to manage Wilson disease and prevent long-term complications. The main goal of treatment is to remove excess copper from the body and prevent its accumulation. This can involve medications or other therapies.

  • Medications: Medications, like chelating agents, bind to copper and help the body to remove it via urine.
  • Lifestyle changes: Dietary modifications may be necessary.

Genetic Disorder

Wilson disease is inherited. This means that the gene defect that causes it is passed down from parents to their children.

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