Wilson’s disease is a rare hereditary disorder that results in a buildup of copper in several organs, including the liver, brain, and eyes. Wilson’s disease is typically diagnosed in individuals aged 5 to 35. However, both younger and older people can be impacted.

Healthy neurones, bones, collagen, and the pigment melanin in the skin are formed using copper. Copper is often absorbed through the food you consume. The excess copper is eliminated by bile, which is produced by your liver.

However, copper is not adequately eliminated and instead builds up in those who have Wilson’s disease. It can occasionally be harmful if left untreated. Wilson’s disease is curable when detected early, and many individuals with the illness lead normal lives.

If you are a medical student or a healthcare provider, it is important to know about Wilson’s disease, its causes, symptoms, diagnosis, and treatment. Keep reading for a detailed insight.

What is Wilson’s Disease? 

Wilson disease is a hereditary condition in which the body collects too much copper in the liver, brain, and eyes. Although symptoms typically start in the teenage years, they usually appear between the ages of 5 and 45. This syndrome is characterised by an association of neurological and mental issues with liver disease.

Wilson disease usually begins as a liver illness in children and young adults. Its symptoms include fatigue, loss of appetite, swelling in the abdomen, and yellowing of the skin or whites of the eyes (jaundice).

Causes and Risk Factors of Wilson’s Disease 

A mutation in the ATP7B gene causes Wilson’s disease, a rare genetic illness that impairs copper metabolism and causes copper to build up in the liver, brain, and other tissues. Since the disease is inherited in an autosomal recessive pattern, the main risk factor is a family history of it, particularly if parents or siblings are affected.

The risk factors of Wilson’s disease are as follows:

• Family History: The most significant risk factor for Wilson’s disease is a family history of the disease, particularly if parents or siblings have been diagnosed. 
• Asymptomatic Carrier Status: Many people with only one copy of the mutated gene are carriers and may not show any symptoms, but they can still pass the gene on to their children.

Symptoms of Wilson’s Disease 

Wilson disease causes copper accumulation from birth, but symptoms may not show up for years or even decades. Depending on the organs impacted, Wilson disease presents with different symptoms, which are as follows:

Symptoms of Liver

• Extreme tiredness 
• Muscle cramps
• Weakness
• Loss of appetite
• Nausea
• Vomiting
• Weight loss
• Fluid in your belly or legs
• jaundice
• Easy bruising
• Neurological symptoms

Symptoms of a Copper Accumulation in the Central Nervous System

• Changes in behaviour
• Stiff muscles
• Tremors, shakes, or movements you can’t control
• Slow or repeated movements
• Weak muscles
• Trouble swallowing
• Poor coordination
• Drooling
• Decreased fine motor abilities
• Mental health symptoms

Other Symptoms 

• Weak, fragile bones (osteoporosis)
• Pain and swelling in joints (arthritis)
• Lack of healthy red blood cells (anaemia)
• Lower levels of platelets or white blood cells

Therefore, Wilson disease symptoms may resemble those of other illnesses as well. To ensure a proper diagnosis, consult a medical professional before starting any treatment.

 Treatment Options for Wilson’s Disease 

Wilson disease treatment involves reducing the harmful amounts of copper in the body and treating the symptoms that arise from malfunctioning organs. A few treatment options include:

• Medications that eliminate copper from the body are chelating agents, D-penicillamine, and tetrathiomolybdate.
• Consuming zinc to stop copper absorption in the intestines.
• Having a copper-deficient diet.

Therefore, people who have Wilson’s disease need lifelong treatment. Stopping the treatment may cause acute liver failure. Thus, your healthcare provider will regularly perform blood and urine tests to examine how the treatment progresses.

 FAQs bout Wilson’s Disease

1. What is Wilson’s disease?

Wilson’s disease is a rare genetic disorder in which excess copper builds up in the body, primarily affecting the liver and brain. The condition is caused by a mutation in the ATP7B gene, which impairs the body’s ability to eliminate excess copper.

2. Can Wilson’s disease be cured?

There is no cure for the disease, and it can only be effectively managed with lifelong treatment. Early diagnosis and proper treatment can prevent severe complications.

3. What happens if Wilson’s disease is left untreated?

Without treatment, Wilson’s disease can lead to severe liver damage, neurological impairment, and even death. In order to control symptoms and avoid consequences, early check-up is essential.

4. Can Wilson’s disease affect children?

Yes, symptoms can appear in childhood, but they often become noticeable between ages 5 and 45. 

5. Is Wilson’s disease common?

No, it is extremely uncommon, impacting roughly 1 in 30,000 individuals globally. However, it is frequently underdiagnosed since its symptoms might be misinterpreted from those of other illnesses.

Conclusion 

Wilson’s disease is a rare but serious genetic disorder that leads to excessive copper accumulation in the body, affecting the liver, brain, and eyes. While the disease can be life-threatening if left untreated, early diagnosis and lifelong treatment can help individuals manage symptoms effectively and lead normal lives.

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