Benefits and drawbacks of current copper chelators in Wilson disease
Background. Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, caused by mutations in the ATP7B gene, which codes for a membrane-bound copper-binding ATPase. This leads to progressive copper accumulation in the liver, with hepatic injury and subsequent copper release into t...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Amaltea Medical Publishing House
2023-03-01
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| Series: | Romanian Journal of Neurology |
| Subjects: | |
| Online Access: | https://rjn.com.ro/articles/2023.1/RJN_2023_1_Art-04.pdf |
| _version_ | 1797807554057732096 |
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| author | Ioan-Cristian Lupescu Maria Speranta Iacob Razvan Iacob Daniela Anghel Octavia Adriana Dulamea Crisanda Vilciu Liliana Gheorghe |
| author_facet | Ioan-Cristian Lupescu Maria Speranta Iacob Razvan Iacob Daniela Anghel Octavia Adriana Dulamea Crisanda Vilciu Liliana Gheorghe |
| author_sort | Ioan-Cristian Lupescu |
| collection | DOAJ |
| description | Background. Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, caused by mutations in the ATP7B gene, which codes for a membrane-bound copper-binding ATPase. This leads to progressive copper accumulation in the liver, with hepatic injury and subsequent copper release into the blood. Aim. To analyze the efficacy and side-effects of the current copper chelating agents used in treatment of Wilson disease. Material and methods. Retrospective study of 37 adult patients diagnosed with Wilson disease at the Gastroenterology and Neurology Departments of Fundeni Clinical Institute between 2012-2017. Patients were grouped into three categories: (a) those with isolated liver disease, (b) those with isolated neurologic (or psychiatric) involvement and (c) those with both liver and neurologic involvement.
Results. There were 54% females (n=20). Mean age at diagnosis was 23 ± 10 years-old. Liver cirrhosis was diagnosed in 54% of cases. Neurologic involvement was described in 65% of patients. Dysarthria was the most common neurologic
feature (43%), followed by Parkinsonism (41%). D-Penicillamine was used as initial treatment in 89% of patients, but was interrupted in 27% of them (n=9) due to its adverse reactions. Keyser-Fleischer rings were absent in a significant proportion (40%) of patients with neurologic involvement. Both Trientine and D-Penicillamine were associated with improved or stationary liver fibrosis, however results were slightly better for Trientine. D-Penicillamine appeared to be a better option than Trientine in patients with neurologic involvement. Conclusions. Based on our study, we recommend treatment with D-Penicillamine as first-line therapy in patients with neurologic involvement. However, due to the frequent side-effects of D-Penicillamine, Trientine could be considered firstline treatment in patients with isolated hepatic involvement. |
| first_indexed | 2024-03-13T06:24:19Z |
| format | Article |
| id | doaj.art-f282d3dea9b54dc19a1025262ace537c |
| institution | Directory Open Access Journal |
| issn | 1843-8148 2069-6094 |
| language | English |
| last_indexed | 2024-03-13T06:24:19Z |
| publishDate | 2023-03-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Neurology |
| spelling | doaj.art-f282d3dea9b54dc19a1025262ace537c2023-06-09T11:12:11ZengAmaltea Medical Publishing HouseRomanian Journal of Neurology1843-81482069-60942023-03-01221232910.37897/RJN.2023.1.4Benefits and drawbacks of current copper chelators in Wilson diseaseIoan-Cristian Lupescu0Maria Speranta Iacob1Razvan Iacob2Daniela Anghel3Octavia Adriana Dulamea4Crisanda Vilciu5Liliana Gheorghe6Neurology Department, Fundeni Clinical Institute, Bucharest, Romania; Gastroenterology Department, Fundeni Clinical Institute, Bucharest, RomaniaGastroenterology Department, Fundeni Clinical Institute, Bucharest, Romania; “Carol Davila” University of Medicine and Pharmacy, Bucharest, RomaniaGastroenterology Department, Fundeni Clinical Institute, Bucharest, Romania; “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania“Carol Davila” University of Medicine and Pharmacy, Bucharest, RomaniaNeurology Department, Fundeni Clinical Institute, Bucharest, Romania; Gastroenterology Department, Fundeni Clinical Institute, Bucharest, RomaniaNeurology Department, Fundeni Clinical Institute, Bucharest, Romania; Gastroenterology Department, Fundeni Clinical Institute, Bucharest, RomaniaGastroenterology Department, Fundeni Clinical Institute, Bucharest, Romania; “Carol Davila” University of Medicine and Pharmacy, Bucharest, RomaniaBackground. Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, caused by mutations in the ATP7B gene, which codes for a membrane-bound copper-binding ATPase. This leads to progressive copper accumulation in the liver, with hepatic injury and subsequent copper release into the blood. Aim. To analyze the efficacy and side-effects of the current copper chelating agents used in treatment of Wilson disease. Material and methods. Retrospective study of 37 adult patients diagnosed with Wilson disease at the Gastroenterology and Neurology Departments of Fundeni Clinical Institute between 2012-2017. Patients were grouped into three categories: (a) those with isolated liver disease, (b) those with isolated neurologic (or psychiatric) involvement and (c) those with both liver and neurologic involvement. Results. There were 54% females (n=20). Mean age at diagnosis was 23 ± 10 years-old. Liver cirrhosis was diagnosed in 54% of cases. Neurologic involvement was described in 65% of patients. Dysarthria was the most common neurologic feature (43%), followed by Parkinsonism (41%). D-Penicillamine was used as initial treatment in 89% of patients, but was interrupted in 27% of them (n=9) due to its adverse reactions. Keyser-Fleischer rings were absent in a significant proportion (40%) of patients with neurologic involvement. Both Trientine and D-Penicillamine were associated with improved or stationary liver fibrosis, however results were slightly better for Trientine. D-Penicillamine appeared to be a better option than Trientine in patients with neurologic involvement. Conclusions. Based on our study, we recommend treatment with D-Penicillamine as first-line therapy in patients with neurologic involvement. However, due to the frequent side-effects of D-Penicillamine, Trientine could be considered firstline treatment in patients with isolated hepatic involvement.https://rjn.com.ro/articles/2023.1/RJN_2023_1_Art-04.pdfwilson diseasetrientined-penicillaminecopper chelator |
| spellingShingle | Ioan-Cristian Lupescu Maria Speranta Iacob Razvan Iacob Daniela Anghel Octavia Adriana Dulamea Crisanda Vilciu Liliana Gheorghe Benefits and drawbacks of current copper chelators in Wilson disease Romanian Journal of Neurology wilson disease trientine d-penicillamine copper chelator |
| title | Benefits and drawbacks of current copper chelators in Wilson disease |
| title_full | Benefits and drawbacks of current copper chelators in Wilson disease |
| title_fullStr | Benefits and drawbacks of current copper chelators in Wilson disease |
| title_full_unstemmed | Benefits and drawbacks of current copper chelators in Wilson disease |
| title_short | Benefits and drawbacks of current copper chelators in Wilson disease |
| title_sort | benefits and drawbacks of current copper chelators in wilson disease |
| topic | wilson disease trientine d-penicillamine copper chelator |
| url | https://rjn.com.ro/articles/2023.1/RJN_2023_1_Art-04.pdf |
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