Wilson's disease - Vejthani Hospital | JCI Accredited International Hospital in Bangkok, Thailand.

Wilson’s disease

Overview

Wilson’s disease is a rare genetic disorder that leads to an accumulation of copper in various organs, particularly the liver, brain, and eyes. While the condition is typically diagnosed in individuals between the ages of 5 and 35, it can also affect younger and older people.

Copper is essential for the health of nerves, bones, collagen, and the skin pigment melanin. Normally, copper is absorbed from food, and excess copper is eliminated by the liver through a substance called bile. However, in Wilson’s disease, the liver fails to remove copper properly, leading to its buildup. If left untreated, this buildup can be life-threatening. Early diagnosis and treatment of Wilson’s disease can manage the condition effectively, allowing many people to lead normal lives.

Symptoms

Wilson’s disease is present from birth, but symptoms typically emerge only after copper accumulates in the brain, liver, eyes, or other organs. The symptoms can differ depending on which parts of the body are affected by the disease. These symptoms may include:

  • Jaundice, a yellowing of the skin and the whites of the eyes.
  • Kayser-Fleischer rings, which are circles around the eyes’ irises that have a golden-brown or coppery hue.
  • Uncontrolled movements or muscle stiffness.
  • A build-up of fluid in the stomach area or legs.
  • Exhaustion.
  • Loss of appetite.
  • Personality changes, depression, and mood swings.
  • Finding it difficult to get to sleep and stay asleep.
  • Issues relating to speech, swallowing, or motor coordination.

If you have symptoms that concern you, schedule a visit with your doctor. This is especially important if you have a family member with Wilson’s disease.

Causes

Wilson’s disease results from a mutated gene that is inherited from each parent. You will be a carrier if you have only one mutated gene. This implies that your offspring may inherit the impacted gene.

Risk factors

Wilson’s illness may be more common in you if it affects your parents or siblings. To determine whether you have Wilson’s disease, ask your doctor if genetic testing is necessary. Early diagnosis of the illness significantly improves the prognosis for recovery.