From the Guidelines
Wilson Disease commonly presents with a combination of hepatic, neurological, and psychiatric symptoms, with the most common symptoms including liver disease, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, as noted in the EASL clinical practice guidelines 1. The clinical presentation of Wilson Disease can vary widely, but key features include liver disease and cirrhosis, neuropsychiatric disturbances, and Kayser-Fleischer rings in Descemet's membrane of the cornea. Some of the most common symptoms of Wilson Disease include:
- Liver disease, such as jaundice, fatigue, abdominal pain, and swelling due to liver damage
- Neuropsychiatric disturbances, such as tremors, poor coordination, difficulty speaking, and involuntary movements
- Psychiatric symptoms, such as personality changes, depression, anxiety, and psychosis
- Kayser-Fleischer rings, a distinctive physical sign that is a golden-brown ring around the cornea visible on eye examination
- Hemolytic anemia, kidney problems, and bone and joint issues These symptoms result from copper accumulation in various organs due to a genetic mutation affecting the ATP7B gene, which impairs copper excretion from the body, as described in the diagnosis and treatment of Wilson Disease update 1. The diagnosis of Wilson Disease can be made through a combination of clinical presentation, laboratory tests, and imaging studies, including liver biopsy and magnetic resonance imaging of the brain, as outlined in the approach to diagnosis of Wilson Disease 1. Early recognition and treatment of Wilson Disease are crucial to prevent progression of the disease and improve quality of life, with treatment options including copper chelating agents like penicillamine, trientine, or zinc 1.
From the FDA Drug Label
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 In this disease, hepatocytes store excess copper, but when their capacity is exceeded copper is released into the blood and is taken up in extrahepatic sites, such as the brain, resulting in motor disorders (ataxia, tremors, speech difficulties) and psychiatric manifestations (irritability, depression, deterioration of work performance) Patients may present clinically with predominantly hepatic, neurologic, or psychiatric symptoms.
The most common symptoms of Wilson Disease are:
- Hepatic symptoms
- Neurologic symptoms, including:
- Motor disorders
- Ataxia
- Tremors
- Speech difficulties
- Psychiatric symptoms, including:
- Irritability
- Depression
- Deterioration of work performance 2
From the Research
Wilson Disease Symptoms
The provided studies do not directly address the most common symptoms of Wilson Disease. However, they do discuss the disease's effects on the body and the importance of treatment.
Treatment and Disease Effects
- Wilson Disease is a copper overload disease that can be treated with chelators like D-penicillamine and trientine, or with zinc to inhibit absorption 3.
- The disease can cause a range of symptoms, from being asymptomatic to promoting acute liver failure 4.
- Treatment must be maintained lifelong and includes drugs like chelating agents and inhibitors of copper absorption 4.
- The goal of treatment is to normalize free copper in serum, which can help improve hepatic injury and neurologic manifestations 3.
Treatment Outcomes
- Studies have compared the effectiveness of different treatments, including D-penicillamine, zinc, and trientine 5, 6.
- D-penicillamine may have a greater impact on side effects and treatment discontinuations than zinc, but zinc may be safer and similarly effective in preventing or reducing hepatic or neurological symptoms 5.
- In pediatric patients, D-penicillamine, zinc, and trientine have therapeutic effects, but D-penicillamine and zinc are associated with more adverse effects compared to trientine 6.