Wilson Disease - Medtick

Wilson Disease

What is it?

Rare inherited disorder that causes copper to accumulate in your brain, eyes, liver, kidney and other vital organs and can be life threatening if not treated.

  • Symptoms of Wilson’s disease usually occur between the ages of 5 and 35.
  • Copper is needed to form collagen and absorb iron in our bodies.
  • As copper levels rise the body will release secreting hydrochloric acid and ferrous iron to oxidize the copper molecules. Over time, this reaction can cause liver scarring (fibrosis), hepatitis and cirrhosis and damage other organs in the body.

Cause

  • Mutation of gene called the ATP7B which the body uses to secrete copper into bile.
  • The mutation of this gene prevents this process and interferes with the excretion of copper from the body and hence one has too much copper in blood.
  • Inherited condition
    • Family history-autosomal recessive disorder (Both parents who are carriers of  the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
    • If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).

Symptoms

  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Abdominal pain and/or are constant violently vomiting or vomiting longer than two days (one day if a child)?
  • Jaundice (yellow skin, yellow eyes, pale faeces, pain in liver area)?
  • Golden-brown eye discoloration (Kayser-Fleischer rings)?
  • Fluid build-up in the legs?
  • Difficulty in speaking and swallowing?
  • Problem in coordination?
  • Aching, painful muscles, muscle cramps/spasms/stiffness?
  • Swollen abdomen?
  • Spider web-like veining on the skin (spider angiomas)?
  • Pain or fullness in the upper left abdomen due to an enlarged spleen?
  • Vomiting of blood?
  • Black and/or tarry stools?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop


This condition can lead to:


This condition can show similar symptoms to and/or mistaken for:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Wilson Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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  • Drugs.com

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  • National Organisation of Rare Diseases

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  • Verywell Health

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