Wilson disease

Wilson’s Disease

Wilson’s disease, also known as hepatolenticular degeneration, is a rare genetic disorder characterized by the body’s inability to properly metabolize copper, leading to its accumulation in various organs, primarily the liver and brain. Named after Samuel Alexander Kinnier Wilson, the physician who first described it in 1912, Wilson’s disease can have severe consequences if left untreated. Understanding this condition is crucial for early detection and management despite its rarity.

Signs and Symptoms

The signs and symptoms of Wilson’s disease can vary widely and often depend on the affected organs and the severity of copper accumulation. Some common manifestations include:

  • Hepatic Symptoms: Liver dysfunction is a hallmark of Wilson’s disease. Patients may experience abdominal pain, jaundice, fatigue, and unexplained weight loss. In severe cases, it can progress to liver failure.
  • Neurological Symptoms: Copper accumulation in the brain can lead to various neurological symptoms, such as tremors, dystonia (involuntary muscle contractions), difficulty with speech and swallowing, and coordination problems resembling Parkinson’s disease.

  • Psychiatric Symptoms: Wilson’s disease can also affect mental health, leading to mood swings, depression, anxiety, and, in some cases, psychosis.

  • Ophthalmological Symptoms: Kayser-Fleischer rings, a characteristic brownish discolouration of the cornea due to copper deposition, can be observed upon eye examination. This sign is highly indicative of Wilson’s disease.

  • Other Symptoms: Additional symptoms may include anaemia, osteoporosis, kidney stones, and infertility.

Early diagnosis is crucial in Wilson’s disease as it allows for timely intervention to prevent irreversible organ damage.

Causes and Risk Factors

Wilson’s disease is caused by mutations in the ATP7B gene, which encodes a protein responsible for transporting excess copper from the liver into bile for excretion. When this mechanism fails, copper accumulates in the liver and spills into the bloodstream, affecting other organs, particularly the brain and eyes.

The disorder is inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the defective gene (one from each parent) to develop the disease. Carriers of a single mutated gene are asymptomatic but can pass the gene on to their offspring.

While Wilson’s disease is primarily genetic, certain factors can exacerbate symptoms or trigger its onset, including excessive copper intake from food or supplements, estrogen therapy, and liver damage from other causes.


Diagnosing Wilson’s disease can be challenging due to its varied presentation and rarity. However, several diagnostic tests and tools can aid in its identification:

  • Blood Tests: Blood tests can reveal elevated levels of liver enzymes and low ceruloplasmin levels, a protein that binds to copper for transport.

  • Urine Tests: Urine tests may show increased urinary copper excretion, although this alone is insufficient for diagnosis.

  • Liver Biopsy: A liver biopsy can confirm the presence of copper accumulation in liver tissue through histological examination.

  • Genetic Testing: Genetic testing can identify mutations in the ATP7B gene, confirming the diagnosis and facilitating family screening.

  • Eye Examination: Detection of Kayser-Fleischer rings during an eye examination highly suggests Wilson’s disease.

Early detection through these diagnostic methods is crucial for initiating appropriate treatment and preventing irreversible organ damage.

Preventive Measures and Treatment Plans

While Wilson’s disease cannot be prevented, early diagnosis and treatment can effectively manage symptoms and prevent complications. The therapy aims to reduce copper accumulation in the body and avoid toxicity.

  • Medication: The mainstay of treatment is copper chelating agents, such as D-penicillamine, trientine, and zinc acetate. These medications bind to excess copper, facilitating its excretion from the body.

  • Dietary Modifications: Patients are advised to avoid foods high in copper, such as shellfish, nuts, chocolate, and mushrooms. A low-copper diet can help reduce copper intake and minimize symptoms.

  • Supplements: Zinc supplements are often prescribed as they inhibit copper absorption in the intestine, helping maintain the body’s copper balance.

  • Liver Transplantation: In cases of advanced liver disease or failure, liver transplantation may be necessary to replace the damaged liver with a healthy one.

  • Regular Monitoring: Patients with Wilson’s disease require lifelong monitoring to assess liver function, copper levels, and overall disease progression. Adjustments to treatment may be made based on monitoring results.

In addition to medical treatment, genetic counselling is recommended for individuals with Wilson’s disease and their families to understand the inheritance pattern and assess the risk of passing the mutated gene to future generations.


In conclusion, Wilson’s disease is a rare genetic disorder characterized by abnormal copper metabolism, leading to its accumulation in various organs and potentially life-threatening complications. Early diagnosis, through clinical evaluation, laboratory tests, and genetic analysis, is essential for effective management. With timely intervention and adherence to treatment, individuals with Wilson’s disease can lead fulfilling lives while minimizing the impact of this potentially debilitating condition.


  1. https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251
  2. https://my.clevelandclinic.org/health/diseases/5957-wilson-disease
  3. https://medlineplus.gov/genetics/condition/wilson-disease/
  4. https://emedicine.medscape.com/article/183456-overview?form=fpf
  5. https://rarediseases.org/rare-diseases/wilson-disease/
  6. https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256