@article{3121497,
    title = "Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers",
    author = "Tampaki, M. and Gatselis, N.K. and Savvanis, S. and Koullias, E. and Saitis, A. and Gabeta, S. and Deutsch, M. and Manesis, E. and Dalekos, G.N. and Koskinas, J.",
    journal = "European Journal of Gastroenterology and Hepatology",
    year = "2020",
    pages = "1545-1552",
    publisher = "Lippincott Williams and Wilkins",
    issn = "0954-691X, 1473-5687",
    doi = "10.1097/MEG.0000000000001670",
    keywords = "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",
    abstract = "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."
}