Τίτλος:
Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objective: Wilson disease is a rare genetic disorder of copper metabolism with a wide range of clinical presentations. The aim of this study is to describe the 30-year clinical experience in the management of Wilson disease patients followed at two Greek referral centers. Methods: A retrospective chart review was performed to identify past and present Wilson disease patients diagnosed during the last 30 years. Results: Sixty-three patients were included. The median age of diagnosis was 19 (3-59) years, while nine (14%) patients were older than 40 years old. Clinical presentation included asymptomatic liver disease (57.1%), neurological disease (20.6%), overt liver disease (12.7%), acute liver failure (6.3%) and other (3.2%). Kayser-Fleischer rings were detected in 27/62 with a higher frequency in neurologic patients (P < 0.001). Ceruloplasmin values were low in 55/63 with significantly lower values in patients with neurological disease (P = 0.048) and in cirrhotic patients (P = 0.017). Increased 24-hour urine copper was measured in 59/63 patients. D-penicillamine was administered in 56/63 patients (88.8%), followed by trientine (6/63, 9.5%), while one patient needed liver transplantation at baseline. At least one treatment switch was performed in 18 patients. By the end of follow-up, all non-cirrhotic patients (25/25) were stable, 3/23 (13%) cirrhotic developed decompensated liver disease, two developed HCC, three received a liver transplant and two died. Five out of 13 neurologic patients had persisting symptoms despite treatment. Conclusion: Wilson disease presents with a wide spectrum of clinical manifestations and should be investigated even in older patients, as early diagnosis, close follow-up and treatment monitoring usually provide favorable outcomes. © 2020 Hogrefe Verlag GmbH & Co. KG. All rights reserved.
Συγγραφείς:
Tampaki, M.
Gatselis, N.K.
Savvanis, S.
Koullias, E.
Saitis, A.
Gabeta, S.
Deutsch, M.
Manesis, E.
Dalekos, G.N.
Koskinas, J.
Περιοδικό:
European Journal of Gastroenterology and Hepatology
Εκδότης:
Lippincott Williams and Wilkins
Λέξεις-κλειδιά:
penicillamine, adult; aged; Greece; human; liver cell carcinoma; liver tumor; middle aged; retrospective study; Wilson disease; young adult, Adult; Aged; Carcinoma, Hepatocellular; Greece; Hepatolenticular Degeneration; Humans; Liver Neoplasms; Middle Aged; Penicillamine; Retrospective Studies; Young Adult
DOI:
10.1097/MEG.0000000000001670
