Thrombophilia screening in the routine clinical care of children with arterial ischemic stroke
Corresponding Author
Kristin Maher
Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Correspondence
Kristin Maher, Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105, USA.
Email: [email protected]
Search for more papers by this authorLaurel Persa
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorDwight Barry
Clinical Analytics, Seattle Children's Hospital, Seattle, Washington, USA
Search for more papers by this authorJacqueline Lee-Eng
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorHelen Dichek
Division of Endocrinology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorSarita Joshi
Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorCatherine Amlie-Lefond
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorCorresponding Author
Kristin Maher
Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Correspondence
Kristin Maher, Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105, USA.
Email: [email protected]
Search for more papers by this authorLaurel Persa
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorDwight Barry
Clinical Analytics, Seattle Children's Hospital, Seattle, Washington, USA
Search for more papers by this authorJacqueline Lee-Eng
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorHelen Dichek
Division of Endocrinology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorSarita Joshi
Division of Hematology-Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorCatherine Amlie-Lefond
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Search for more papers by this authorAbstract
Background
Current guidelines recommend thrombophilia evaluation in childhood arterial ischemic stroke, but the impact of screening on management is unknown. The objective of the current study is to report the incidence of thrombophilia identified as part of routine clinical care in the context of available literature reports, and to describe the impact of a diagnosis of thrombophilia on patient management.
Methods
We conducted a single-institution retrospective chart review for all children with arterial ischemic stroke occurring between January 1, 2009 and January 1, 2021. We collected thrombophilia screening results, stroke etiology, and management. We also reviewed the literature of thrombophilia testing in childhood arterial ischemic stroke published prior to June 30, 2022. Meta-analysis methods were used to assess prevalence rates.
Results
Among children with thrombophilia testing performed, 5% (six of 122 patients) were factor V Leiden heterozygous, 1% (one of 102 patients) were prothrombin gene mutation heterozygous, 1% (one of 122) had protein S deficiency, 20% (23/116 patients) had elevated lipoprotein(a), 3% (three of 110 patients) had elevated homocysteine levels, and 9% (10/112) had elevated antiphospholipid antibodies, only two of whom had persistently elevated levels. There was no change in stroke therapy due to these results. Literature review revealed a wide range of prevalence for most thrombophilia traits, with high cross-study heterogeneity in most cases.
Conclusions
The rates of thrombophilia in our cohort were consistent with that expected in the general population. The identification of thrombophilia did not alter stroke care. However, some of the results were actionable, prompting evaluation for lipid disorders and patient-specific counseling on cardiovascular risk and risk for venous thrombosis.
CONFLICT OF INTEREST STATEMENT
The authors have no affiliations with or involvement in any organization or entity with any financial interest, or nonfinancial interest, in the subject matter or materials discussed in this manuscript.
Supporting Information
| Filename | Description |
|---|---|
| pbc30381-sup-0002-figureS1.pdf158.8 KB | Supporting Information. Figure S1 Forest plots showing 95% confidence intervals (CI) for studies investigating the proportion of pediatric patients with arterial ischemic stroke who were found to have thrombophilia. The study author and year of publication are indicated on the y-axis. Studies are in order of increasing incidence of the thrombophilia trait. The pooled estimate is based on a random-effects model and shown by a vertical line and diamond (95% CI). Prediction interval and measures of heterogeneity are reported at the bottom of each plot. |
| pbc30381-sup-0001-tableS1.docx24.4 KB | Supporting Information |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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