From the Guidelines
Wilson disease symptoms include liver problems, neurological issues, psychiatric symptoms, and distinctive physical signs, and early diagnosis is crucial to prevent progression of symptoms and improve quality of life. The disease typically presents with a range of symptoms, including:
- Liver problems like jaundice, fatigue, and abdominal swelling
- Neurological issues such as tremors, coordination problems, and speech difficulties
- Psychiatric symptoms including personality changes, depression, and anxiety
- Distinctive physical signs like Kayser-Fleischer rings and blue lunulae These symptoms occur due to copper accumulation in the body, particularly in the liver, brain, and eyes, resulting from a genetic mutation affecting copper metabolism 1. Patients may also experience transient episodes of jaundice due to hemolysis, and low-grade hemolysis may be associated with Wilson disease when liver disease is not clinically evident 1.
The disease can present at any age, but typically appears between ages 5 and 35, with liver symptoms often developing first in children and neurological symptoms more common in adults 1. Neurologic manifestations of Wilson disease typically present later than the liver disease, most often in the third decade of life, but they can present in childhood 1. Patients with Wilson disease may also present with important extra-hepatic manifestations apart from neurologic or psychiatric disease, including renal abnormalities, skeletal abnormalities, and cardiomyopathy 1.
Early diagnosis is crucial as treatment with copper-chelating medications can effectively manage the condition and prevent progression of symptoms. Hepatic parenchymal copper content >250g/g dry weight provides critical diagnostic information and should be obtained in cases where the diagnosis is not straightforward and in younger patients 1. Without treatment, Wilson disease can lead to liver failure, severe neurological damage, and death, but with proper management, patients can lead normal lives.
From the Research
Wilson Disease Symptoms
The symptoms of Wilson disease are not explicitly mentioned in the provided study 2. However, it can be inferred that the disease affects the liver, and some possible symptoms may include:
- Liver dysfunction
- Acute liver failure
- Advanced liver disease It is essential to consider a diagnosis of Wilson disease and use a combination of clinical and biochemical tests, liver biopsy results, and molecular genetic testing to establish a diagnosis 2.
Diagnosis and Treatment
The study highlights the importance of diagnosis and treatment in managing Wilson disease. Medical therapy is effective for most patients, and liver transplant can be a rescue option for those with acute liver failure or advanced liver disease who do not respond to medical therapy 2. Treatment monitoring is crucial and should be done at regular intervals, including:
- Clinical evaluation
- Liver tests and blood counts
- Copper metabolic parameters