Wilson’s Disease

Wilson’s disease is a rare inherited disorder in which excess copper accumulates in the body, particularly in the liver, brain, and eyes. Normally, the body removes extra copper through bile, but in Wilson’s disease, this process is impaired, leading to toxic copper buildup.

The condition usually appears in children, adolescents, or young adults. If left untreated, Wilson’s disease can cause serious liver and neurological damage, but early diagnosis and lifelong treatment can effectively control symptoms and prevent complications.

Symptoms

Symptoms of Wilson’s disease vary depending on the organs affected and may develop gradually:

• Fatigue and weakness

• Abdominal pain or swelling

• Jaundice (yellowing of the skin and eyes)

• Nausea or loss of appetite

• Tremors or muscle stiffness

• Difficulty with speech or swallowing

• Poor coordination or balance problems

• Behavioral changes, depression, or anxiety

• Personality changes or cognitive difficulties

• Kayser–Fleischer rings, which are brownish rings around the cornea

Some individuals may first present with liver-related symptoms, while others show neurological or psychiatric signs.

Causes

Wilson’s disease is caused by mutations in the ATP7B gene, which is responsible for regulating copper transport and excretion in the liver. Due to this defect, copper is not properly eliminated and instead accumulates in tissues throughout the body.

The condition is inherited in an autosomal recessive pattern, meaning a person must inherit the faulty gene from both parents.

Risk Factors

Factors associated with an increased risk of Wilson’s disease include:

• Family history of Wilson’s disease

• Having siblings diagnosed with the condition

• Genetic inheritance from both carrier parents

• Onset typically between ages 5 and 35

The disease affects males and females equally.

Complications

Without treatment, Wilson’s disease can lead to severe and potentially life-threatening complications:

• Chronic liver disease, cirrhosis, or liver failure

• Neurological damage affecting movement and coordination

• Psychiatric disorders, including severe depression or psychosis

• Hemolytic anemia due to copper toxicity

• Kidney problems

• Increased risk of death if untreated

Early and continuous treatment significantly reduces the risk of these complications.

Prevention

Wilson’s disease cannot be prevented because it is a genetic disorder, but early detection and management are crucial:

• Screening family members of affected individuals

• Genetic counseling for families with a history of the disease

• Lifelong treatment with copper-chelating medications or zinc therapy

• Avoiding foods high in copper, such as shellfish, liver, nuts, and chocolate

• Regular monitoring of liver function and copper levels

With early diagnosis and consistent treatment, individuals with Wilson’s disease can lead normal, healthy lives and prevent serious organ damage.