Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review
Background: Treatment of Wilson’s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD. M...
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MDPI AG
2023-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/14/2424 |
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| author | Tomasz Litwin Agnieszka Antos Jan Bembenek Adam Przybyłkowski Iwona Kurkowska-Jastrzębska Marta Skowrońska Anna Członkowska |
| author_facet | Tomasz Litwin Agnieszka Antos Jan Bembenek Adam Przybyłkowski Iwona Kurkowska-Jastrzębska Marta Skowrońska Anna Członkowska |
| author_sort | Tomasz Litwin |
| collection | DOAJ |
| description | Background: Treatment of Wilson’s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD. Methods: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023. Results: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin. Conclusions: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist. |
| first_indexed | 2024-03-11T01:09:58Z |
| format | Article |
| id | doaj.art-ae42020f8ab94645bccc1caf7fc41bc4 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T01:09:58Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-ae42020f8ab94645bccc1caf7fc41bc42023-11-18T18:58:41ZengMDPI AGDiagnostics2075-44182023-07-011314242410.3390/diagnostics13142424Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic ReviewTomasz Litwin0Agnieszka Antos1Jan Bembenek2Adam Przybyłkowski3Iwona Kurkowska-Jastrzębska4Marta Skowrońska5Anna Członkowska6Second Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandSecond Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandDepartment of Clinical Neurophysiology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandDepartment of Gastroenterology and Internal Medicine, Medical University of Warsaw, 02-091 Warsaw, PolandSecond Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandSecond Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandSecond Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, PolandBackground: Treatment of Wilson’s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD. Methods: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023. Results: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin. Conclusions: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist.https://www.mdpi.com/2075-4418/13/14/2424Wilson’s diseasecopperneuropathymyelopathypancytopenia |
| spellingShingle | Tomasz Litwin Agnieszka Antos Jan Bembenek Adam Przybyłkowski Iwona Kurkowska-Jastrzębska Marta Skowrońska Anna Członkowska Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review Diagnostics Wilson’s disease copper neuropathy myelopathy pancytopenia |
| title | Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review |
| title_full | Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review |
| title_fullStr | Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review |
| title_full_unstemmed | Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review |
| title_short | Copper Deficiency as Wilson’s Disease Overtreatment: A Systematic Review |
| title_sort | copper deficiency as wilson s disease overtreatment a systematic review |
| topic | Wilson’s disease copper neuropathy myelopathy pancytopenia |
| url | https://www.mdpi.com/2075-4418/13/14/2424 |
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