From the Guidelines
Wilson's disease is a rare genetic disorder characterized by the accumulation of copper in the body, particularly in the liver, brain, and eyes, due to mutations in the ATP7B gene, leading to toxic levels of copper and damage to organs and tissues. This condition occurs when a person inherits two defective copies of the ATP7B gene, which normally helps remove excess copper 1. The accumulation of copper in affected tissues results in a wide range of clinical presentations, including liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings in Desçemet's membrane of the cornea, and acute episodes of hemolysis often in association with acute liver failure 1.
Key Features of Wilson's Disease
- Liver disease and cirrhosis
- Neuropsychiatric disturbances
- Kayser-Fleischer rings in Desçemet's membrane of the cornea
- Acute episodes of hemolysis often in association with acute liver failure
- Symptoms typically appear between ages 5 and 35, but the condition can present at any age 1
Treatment and Management
Treatment involves lifelong copper-chelating medications like penicillamine, trientine, or zinc acetate to remove excess copper and prevent further accumulation 1. Zinc therapy is recommended as a first-line treatment for asymptomatic or presymptomatic patients, as well as for patients with neurological symptoms, due to its efficacy and better tolerability compared to chelating agents 1. Dietary modifications to reduce copper intake, such as avoiding shellfish, nuts, chocolate, and mushrooms, are also recommended. Regular monitoring of copper levels and liver function is necessary to ensure treatment effectiveness.
Importance of Early Diagnosis and Treatment
Early diagnosis and treatment are crucial as the condition is fatal if left untreated 1. With proper treatment, patients with Wilson's disease can lead normal lives, and the progression of the disease can be halted or slowed down. Regular monitoring and adherence to treatment are essential to prevent complications and ensure the best possible outcomes for patients with Wilson's disease.
From the FDA Drug Label
Wilson's disease (hepatolenticular degeneration) occurs in individuals who have inherited an autosomal-recessive defect that leads to an accumulation of copper far in excess of metabolic requirements Wilson's disease (hepatolenticular degeneration)is an autosomal inherited metabolic defect resulting in an inability to maintain a near-zero balance of copper. Wilson's disease (hepatolenticular degeneration) is an autosomal recessive metabolic defect in hepatic excretion of copper in the bile, resulting in accumulation of excess copper in the liver, and subsequently in other organs, including the brain, kidneys, eyes, bone, and muscles
Definition of Wilson's Disease: Wilson's disease is an autosomal recessive inherited disorder characterized by an accumulation of excess copper in the body, particularly in the liver and brain, due to a metabolic defect in hepatic excretion of copper.
- Key features include:
From the Research
Definition of Wilson's Disease
Wilson's disease is an autosomal recessive disorder characterized by copper accumulation and toxicity in the liver and other tissues 5. It is caused by mutations in the ATP7B gene, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain, and other organs 6, 7.
Key Features of Wilson's Disease
- Copper accumulation and toxicity in the liver and other tissues 5
- Impaired copper homeostasis due to mutations in the ATP7B gene 6, 7
- Clinical presentations include liver disease, neurological or psychiatric disturbances, and other less common features 5, 7
- Diagnosis is often difficult and may require clinical, biochemical, imaging, histochemical, and genetic evaluations 5
Pathophysiology of Wilson's Disease
- The liver is the main organ for copper distribution and detoxification in the body 6
- Mutations in the ATP7B gene induce an impaired functioning of a Cu-ATPase, leading to impaired Cu detoxification in the liver and copper overload in the body 6
- Copper overload promotes cytotoxic reactions leading to oxidative stress, which can cause damage to the liver and other organs 6