Wilson’s disease: This genetic disease damages your liver, brain and more

Wilson's disease is an inherited disorder that affects you due to copper buildup. Here's everything you need to know about Wilson's disease.
Wilson's disease
Wilson's disease: This rare disease damages your liver, brain. Image courtesy: Adobe Stock
Arushi Bidhuri Published: 28 Jan 2023, 13:30 pm IST
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From essential nutrients to supplements, excess of anything in your body can be dangerous for your health. Excess copper is no different! While it is a rare condition called Wilson’s disease, it is one that requires early treatment to stop the progression. Also known as progressive lenticular degeneration or hepatolenticular degeneration, it is a disease that occurs due to excess accumulation of copper in your system.

HealthShots asked Dr Ravi Kiran SK, consultant hepatology at Narayana Health City in Bengaluru, to know more about Wilson’s disease.

What is Wilson’s Disease?

In the early 1900s, Kinnier Wilson described a rare genetic disorder in which there is an excess accumulation of copper in the body, especially in the liver, brain, kidneys, and cornea. This familial disorder, Wilson’s Disease (WD) is characterized by progressive neurological dysfunction, liver cirrhosis, and abnormalities in the cornea of the eyes, explains Dr SK.

liver health
Know everything about Wilson’s disease. Image courtesy: Shutterstock

In a healthy body, the liver filters out extra copper through urine. With Wilson’s disease, the liver is unable to remove excess copper which leads to the accumulation of copper in the liver, eyes, and brain.

Signs and symptoms of Wilson’s disease

The signs and symptoms of the disease vary widely. Hence, the conformation of the disease may be difficult and delayed. It can manifest at any age as a progressive neurological disease without liver involvement, or sometimes it can cause rapidly developing liver failure, hemolysis, or psychiatric illness, explains Dr SK.

As per several medical authorities, the signs and symptoms of Wilson’s disease depend on the body part affected by the disease. However, the common signs of Wilson’s disease include:

  • Lethargy or fatigue
  • Eye discolouration
  • Jaundice (yellowing of the skin and eye)
  • Swollen legs due to fluid buildup
  • Water buildup in the abdomen
  • Muscle stiffness
  • Uncontrolled movement
  • Speech problems
  • Swallowing

Movement disorder is a common neurological sign of Wilson’s Disease (WD). It is mostly seen in the second-third decade of life or later. Most of these patients have asymptomatic underlying liver involvement. Wilson’s Disease (WD) can also involve eyes resulting in rings and cataracts, kidney stones, and weak bones that could lead to osteoporosis, adds the haematologist.

Diagnosis and prevention

Wilson’s disease is identified based on factors like your medical history, physical examination, blood tests, urine tests, and family history. If diagnosed early before advanced organ damage is established, excess copper can be eliminated using medicines (chelating agents) and disease progression can be prevented.

Wilson's disease
Know about the diagnosis and prevention of Wilson’s disease. Image Courtesy: Shutterstock

This disease is due to liver involvement is more common in younger patients and is usually considered a part of the workup in any child with abnormal liver functions or enlarged liver. Wilson’s disease must also be considered in children who present with acute liver failure. Even in patients with predominant liver disease, there can be subtle neuro-psychiatric involvement, says the expert.

Visit your doctor immediately if you notice any symptoms mentioned in the article.

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About the Author

Arushi Bidhuri is a journalist with 7 years of experience in writing, editing, and conceptualizing story ideas across different genres, including health and wellness, lifestyle, politics, beauty, fashion, and more. Arushi has a strong connection in the industry that helps her write concise and original stories as she believes in working towards writing pieces that can enlighten people. ...Read More

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