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Original article
Utility of current thrombophilia screening in young patients with stroke and TIA
  1. Vafa Alakbarzade1,
  2. Alice Taylor2,
  3. Marie Scully2,
  4. Robert Simister1,
  5. Arvind Chandratheva1
  1. 1 Hyper-acute Stroke Unit, University College London Hospitals NHS Foundation Trust, London, UK
  2. 2 Department of Haematology, University College London Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Vafa Alakbarzade; vafa.alakbarzade.10{at}ucl.ac.uk

Abstract

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.

  • thrombophilia testing
  • young stroke
  • transient ischaemic attack
  • antiphospholipid antibody

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/.

https://doi.org/10.1136/svn-2018-000169

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    Footnotes

    • Contributors AC and AT designed the study. VA and AT collected the data. VA wrote the manuscript. MS, RS, AC and AT reviewed, edited and approved the final version of the manuscript. VA, AT and AC are guarantors.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests VA received a European Stroke Organisation Young Investigator Award and was funded for the platform presentation.

    • Patient consent Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement All available data can be obtained by contacting the corresponding author.