What exactly is Wilson's disease- causes and symptoms

Unless you have Wilson's disease, or you know someone who does, you've probably never heard of this rare genetic condition. With non-specific symptoms that mainly affect the brain and the liver, this slippery condition is tricky to diagnose, and it can have serious complications if left untreated.

What is Wilson disease?

Wilson disease is a rare genetic condition that occurs when your body accumulates too much copper, especially in the liver and brain. Your body needs a small amount of copper from food to stay healthy, but without treatment, Wilson disease can lead to high copper levels that cause life-threatening organ damage.

Who does Wilson disease affect?

Wilson disease is passed on from parents to their children. It requires a copy of the abnormal gene from each parent. It’s very difficult to know who will develop it because parents often have no symptoms to let them know that they carry the abnormal gene. If you have other close relatives with the disease, you’re more likely to be at risk.

How common is Wilson disease?

Wilson disease affects an estimated 1 out of every 30,000 people. It’s more common among people with a family history of the condition. There are more people who have only one copy of the abnormal gene (carriers). Carriers won’t usually have symptoms, even though they can give the disease to their children. Because there are no symptoms in carriers, it’s hard to know exactly how many people in the general population have an abnormal copy of the gene.

How does Wilson disease affect my body?

Wilson disease, without early diagnosis and treatment, can lead to life-threatening complications. Toxic levels of copper build up in your body, especially in the liver and brain, and put you at risk of organ damage. Increased copper levels will affect how you feel, often making you very tired or weak and uncomfortable or in pain. If you have weakness, tiredness or pain that doesn’t go away, reach out to your healthcare provider for advice.

Symptoms and Causes

 What are the symptoms of Wilson disease?

Symptoms of Wilson disease vary a lot from person to person.

Wilson disease is present at birth (congenital), but the symptoms don’t appear until copper builds up in your liver, brain, eyes or other organs. People who have Wilson disease typically develop symptoms between ages 5 and 40. However, some people develop symptoms at younger or older ages.

Some people are diagnosed with other liver or mental health disorders when they actually have Wilson disease. This is because symptoms can be nonspecific and similar to other conditions until copper levels are measured.

 

Liver symptoms

People with Wilson disease often develop symptoms of hepatitis (inflammation of the liver) and can have an abrupt decrease in liver function (acute liver failure). These symptoms may include:

• Fatigue.
• Nausea and vomiting.
• Poor appetite.
• Pain over the liver, in the upper part of your abdomen.
• Dark urine color.
• Light color of stool.
• Yellow tint to the whites of your eyes and skin (jaundice).

Some people with Wilson disease have symptoms only if they develop chronic liver diseases and complications from cirrhosis. These symptoms may include:

• Fatigue and weakness.
• Unexpected weight loss.
• Bloating from a buildup of fluid in the abdomen (ascites).
• Swelling of the lower legs, ankles or feet (edema).
• Itchy skin.
• Severe jaundice.

Central nervous system symptoms

People with Wilson disease may develop central nervous system symptoms that affect their mental health as copper builds up in their body. These symptoms are more common in adults but do also occur in children.

Nervous system symptoms may include:

• Problems with speech, swallowing or physical coordination.
• Stiff muscles.
• Tremors or uncontrolled movements.

Symptoms of Wilson disease that affect a person’s mental health include:

• Anxiety.
• Changes in mood, personality or behavior.
• Depression
  
• Disruptions to thoughts and feelings that make it difficult to tell what’s real and what isn’t (psychosis).

Eye symptoms

Many people with Wilson disease have green, gold or brown rings around the edge of the corneas in their eyes (Kayser-Fleischer rings). A buildup of copper in the eyes causes the Kayser-Fleischer rings. Your healthcare provider can see these rings during a special eye exam called a slit-lamp exam.

Most people diagnosed with Wilson disease who have symptoms that affect their nervous system also have Kayser-Fleischer rings. About half of the people diagnosed with Wilson disease who only have symptoms that affect their liver also have Kayser-Fleischer rings.

Other symptoms of Wilson disease

Wilson disease can affect other parts of your body and cause symptoms including:

• Hemolytic anemia.
• Bone and joint problems ( arthritis or osteoporosis).
• Heart problems (cardiomyopathy).
• Kidney problems (renal tubular acidosis or kidney stones)

 

 

This is only for your information, kindly take the advice of your doctor for medicines, exercises and so on.   

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