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Utility of current thrombophilia screening in young patients with stroke and TIA
INTRODUCTION: Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA). METHODS: We present a...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312074/ https://www.ncbi.nlm.nih.gov/pubmed/30637129 http://dx.doi.org/10.1136/svn-2018-000169 |
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author | Alakbarzade, Vafa Taylor, Alice Scully, Marie Simister, Robert Chandratheva, Arvind |
author_facet | Alakbarzade, Vafa Taylor, Alice Scully, Marie Simister, Robert Chandratheva, Arvind |
author_sort | Alakbarzade, Vafa |
collection | PubMed |
description | INTRODUCTION: Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA). METHODS: We present a retrospective review of all patients with stroke and TIA ≤60 years presenting to University College London Hospital stroke unit and daily TIA clinic from 1 January 2015 to 1 August 2016. Consecutive clinical records and thrombophilia tests, including factor V Leiden (FVL), prothrombin G20210A mutation (PGM), antiphospholipid antibody (APA), and protein S, C and antithrombin (AT) levels, were reviewed. RESULTS: The mean age of 628 patients with stroke and TIA was 49.1 years (SD 9.2). Thrombophilia testing was performed in 360 (57%) patients, including 171 with stroke and 189 with TIA. Positive tests were found in 50 (14%) patients, of whom 24 patients were <50 years. Positive results were found in 36 (10%) with acute ischaemic stroke, 4 (1%) with haemorrhagic stroke and 10 (3%) with TIA. Thirteen patients (4%) had homozygous/heterozygous FVL or PGM, and 27 (7.5%) had positive APA (anticardiolipin antibody, anti-β2 glycoprotein antibody or lupus anticoagulant). Of 27 (7.5%) patients with protein C, S or AT deficiency, 10 (2.8%) had primary deficiency, presumed hereditary with other secondary causes excluded. 9% of patients with protein C, S or AT and 27% with APA were followed by confirmatory testing. CONCLUSION: Thrombophilia testing was positive in only 14% of cases overall. Thrombophilia mutations and protein C, S or AT abnormalities were found rarely and were very uncommon in patients with TIA. Follow-up of abnormal results was generally poor for all groups, which further limited the impact of the thrombophilia testing policy. |
format | Online Article Text |
id | pubmed-6312074 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-63120742019-01-11 Utility of current thrombophilia screening in young patients with stroke and TIA Alakbarzade, Vafa Taylor, Alice Scully, Marie Simister, Robert Chandratheva, Arvind Stroke Vasc Neurol Original Article INTRODUCTION: Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA). METHODS: We present a retrospective review of all patients with stroke and TIA ≤60 years presenting to University College London Hospital stroke unit and daily TIA clinic from 1 January 2015 to 1 August 2016. Consecutive clinical records and thrombophilia tests, including factor V Leiden (FVL), prothrombin G20210A mutation (PGM), antiphospholipid antibody (APA), and protein S, C and antithrombin (AT) levels, were reviewed. RESULTS: The mean age of 628 patients with stroke and TIA was 49.1 years (SD 9.2). Thrombophilia testing was performed in 360 (57%) patients, including 171 with stroke and 189 with TIA. Positive tests were found in 50 (14%) patients, of whom 24 patients were <50 years. Positive results were found in 36 (10%) with acute ischaemic stroke, 4 (1%) with haemorrhagic stroke and 10 (3%) with TIA. Thirteen patients (4%) had homozygous/heterozygous FVL or PGM, and 27 (7.5%) had positive APA (anticardiolipin antibody, anti-β2 glycoprotein antibody or lupus anticoagulant). Of 27 (7.5%) patients with protein C, S or AT deficiency, 10 (2.8%) had primary deficiency, presumed hereditary with other secondary causes excluded. 9% of patients with protein C, S or AT and 27% with APA were followed by confirmatory testing. CONCLUSION: Thrombophilia testing was positive in only 14% of cases overall. Thrombophilia mutations and protein C, S or AT abnormalities were found rarely and were very uncommon in patients with TIA. Follow-up of abnormal results was generally poor for all groups, which further limited the impact of the thrombophilia testing policy. BMJ Publishing Group 2018-09-12 /pmc/articles/PMC6312074/ /pubmed/30637129 http://dx.doi.org/10.1136/svn-2018-000169 Text en © Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/. |
spellingShingle | Original Article Alakbarzade, Vafa Taylor, Alice Scully, Marie Simister, Robert Chandratheva, Arvind Utility of current thrombophilia screening in young patients with stroke and TIA |
title | Utility of current thrombophilia screening in young patients with stroke and TIA |
title_full | Utility of current thrombophilia screening in young patients with stroke and TIA |
title_fullStr | Utility of current thrombophilia screening in young patients with stroke and TIA |
title_full_unstemmed | Utility of current thrombophilia screening in young patients with stroke and TIA |
title_short | Utility of current thrombophilia screening in young patients with stroke and TIA |
title_sort | utility of current thrombophilia screening in young patients with stroke and tia |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312074/ https://www.ncbi.nlm.nih.gov/pubmed/30637129 http://dx.doi.org/10.1136/svn-2018-000169 |
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