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Wilson's disease

Diseases and Conditions Wilson's disease
Overview Types Causes & Risk Factors Symptoms Preventions Treatment
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Overview

Wilson's disease is a rare genetic disorder that affects the body's ability to remove excess copper from the bloodstream. Copper is an essential nutrient that plays a crucial role in many bodily functions, but excessive levels can be toxic. In Wilson's disease, the accumulation of copper can lead to damage in various organs, particularly the liver, brain, and eyes.

Types of Wilson's disease

There are two main types of Wilson's disease:

  1. Classical Wilson's Disease: This type is characterized by a rapid onset of symptoms, typically in early childhood or adolescence.
  2. Non-Classical Wilson's Disease: This type is characterized by a slower onset of symptoms and may present in adulthood.

Causes of Wilson's disease

Wilson's disease is caused by mutations in the ATP7B gene, which codes for a protein responsible for transporting copper out of the liver and into the bile for excretion. The accumulation of copper in the body can lead to damage in various organs.

Risk Factors of Wilson's disease

The following factors may increase the risk of developing Wilson's disease:

  1. Genetic predisposition: Family history of Wilson's disease
  2. Ethnicity: People of European or Middle Eastern descent are more likely to develop Wilson's disease
  3. Age: Most people are diagnosed between the ages of 5 and 35

Symptoms of Wilson's disease

The symptoms of Wilson's disease can vary depending on the extent of copper buildup and organ involvement. Common symptoms include:
1. Jaundice: Yellowing of the skin and eyes.
2. Fatigue: Chronic fatigue and lethargy.
3. Weight Loss: Decreased appetite and weight loss.
4. Nervous system symptoms: Muscle weakness, tremors, and coordination problems.
5. Eye problems: Kayser-Fleischer rings (a ring-like deposit in the eyes) and other eye abnormalities.
6. Cognitive Impairment: Memory loss, difficulty concentrating, and personality changes.

Preventions of Wilson's disease

There is no known way to prevent Wilson's disease as it is an inherited condition. However, early detection and treatment can significantly improve outcomes.

Complications:

Untreated or late-stage Wilson's disease can lead to serious complications, including:

  1. Liver failure: Cirrhosis and liver failure
  2. Brain damage: Cerebral edema and brain damage
  3. Eye damage: Vision loss and blindness
  4. Neurological problems: Seizures, muscle weakness, and paralysis.

Diagnosis of Wilson's disease

Diagnosis of Wilson's disease typically involves a combination of:

  1. Medical history: Family history and patient history.
  2. Physical examination: Observation of physical symptoms.
  3. Laboratory tests: Blood tests to measure copper levels and liver function.
  4. Imaging tests: CT scans or MRI scans to visualize liver damage.

Treatment for Wilson's disease

Treatment for Wilson's disease typically involves:

  1. Chelation therapy: Medications to bind to copper ions and remove them from the body.
  2. Dietary modifications: Restricting copper-rich foods and increasing zinc intake.
  3. Liver transplantation: In severe cases, liver transplantation may be necessary.

When to seek medical attention ?

If you or your child experiences symptoms such as jaundice, fatigue, or loss of appetite, consult with a healthcare professional for evaluation.