BACKGROUND/AIMS: Wilson's disease is a rare disease and difficult to establish diagnosis. We aim to improve understanding and early diagnosis. METHODOLOGY: Medical records were reviewed for 110 patients with Wilson's disease. The clinical manifestations and laboratory findings were retrospectively analyzed, especially in terms of age, type of liver injury. RESULTS: Age range at diagnosis was wide (4 to 52 years).The most frequent hepatic manifestations observed were jaundice (40.9%), fatigue (37.3%), nausea or vomiting (32.7%) and bloating (30.0%). Hepatic involvement in affected patients may take one of several different presentations. Thirty-eight patients were found cirrhosis with asymptomatic or slowly progressive hepatic dysfunction. Twelve were acute liver failure superimposed on chronic cirrhosis. Fifteen were acute hepatic failure without cirrhosis. Nineteen presented as acute hepatitis. Four showed chronic liver dysfunction. Five were asymptomatic aminotransferasemia. Another 17 patients showed neurological disorders with cirrhosis. Kayser-Fleischer rings were found in 91.3% patients. The serum ceruloplasmin decreased in 85.1%, 24-hour urinary copper increased in 83.9%, and serum copper decreased in 61.9% patients. CONCLUSIONS: The clinical manifestation of Wilson's disease is very diverse and no one feature is completely reliable. Patients at any age with liver injury of unknown etiology should be screened for Wilson's disease.
BACKGROUND/AIMS: Wilson's disease is a rare disease and difficult to establish diagnosis. We aim to improve understanding and early diagnosis. METHODOLOGY: Medical records were reviewed for 110 patients with Wilson's disease. The clinical manifestations and laboratory findings were retrospectively analyzed, especially in terms of age, type of liver injury. RESULTS: Age range at diagnosis was wide (4 to 52 years).The most frequent hepatic manifestations observed were jaundice (40.9%), fatigue (37.3%), nausea or vomiting (32.7%) and bloating (30.0%). Hepatic involvement in affected patients may take one of several different presentations. Thirty-eight patients were found cirrhosis with asymptomatic or slowly progressive hepatic dysfunction. Twelve were acute liver failure superimposed on chronic cirrhosis. Fifteen were acute hepatic failure without cirrhosis. Nineteen presented as acute hepatitis. Four showed chronic liver dysfunction. Five were asymptomatic aminotransferasemia. Another 17 patients showed neurological disorders with cirrhosis. Kayser-Fleischer rings were found in 91.3% patients. The serum ceruloplasmin decreased in 85.1%, 24-hour urinary copper increased in 83.9%, and serum copper decreased in 61.9% patients. CONCLUSIONS: The clinical manifestation of Wilson's disease is very diverse and no one feature is completely reliable. Patients at any age with liver injury of unknown etiology should be screened for Wilson's disease.
Authors: Nina Weiler; Andreas Schlotmann; Andreas Anton Schnitzbauer; Stefan Zeuzem; Martin-Walter Welker Journal: Dtsch Arztebl Int Date: 2020-01-24 Impact factor: 5.594