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Hepatic features of Wilson disease
Salih Boga1, Aftab Ala2, Michael L Schilsky3
1Department of Gastroenterology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey.
Handbook of Clinical Neurology
|April 24, 2017
Summary
Wilson disease (WD) results from defective ATP7B function, causing copper buildup and liver damage. Early diagnosis and treatment are crucial for an excellent prognosis, especially before cirrhosis develops.
Area of Science:
- Hepatology
- Genetics
- Neurology
Background:
- Wilson disease (WD) is an inherited disorder caused by mutations in the ATP7B gene.
- Defective ATP7B function impairs biliary copper excretion, leading to toxic copper accumulation in the liver and brain.
- This accumulation causes cellular damage, manifesting as hepatic, neurologic, or psychiatric symptoms.
Purpose of the Study:
- To describe the diverse hepatic manifestations of Wilson disease.
- To highlight the variability in clinical presentation and disease progression.
- To emphasize the importance of early diagnosis and treatment for patient outcomes.
Main Methods:
- Review of clinical data and literature on Wilson disease patients.
- Analysis of hepatic, neurologic, and psychiatric presentations.
- Correlation of disease stage with diagnostic findings and treatment response.
Main Results:
- Hepatic manifestations range from asymptomatic cases to chronic active hepatitis, cirrhosis, and acute liver failure.
- Neurologic and psychiatric symptoms often occur alongside liver disease.
- Liver cancer is a potential complication, particularly in patients with cirrhosis and inflammation.
- Prognosis is excellent with timely, WD-specific therapy and management of liver disease.
Conclusions:
- Wilson disease presents with a wide spectrum of liver disease, often preceding neurologic symptoms.
- Early detection through screening or laboratory testing is vital.
- Prompt, comprehensive treatment improves prognosis significantly, especially in non-cirrhotic patients.