Low value of inherited thrombophilia testing among patients with stroke or transient ischemic attack: A three-year retrospective study

Shyam Majmundar; Sameep Thapa; Elan S Miller; Rodney Bell; Robin Dharia; Diana Tzeng; Shaista Alam; Ruben Rhoades

doi:10.1016/j.jstrokecerebrovasdis.2023.107308

Low value of inherited thrombophilia testing among patients with stroke or transient ischemic attack: A three-year retrospective study

J Stroke Cerebrovasc Dis. 2023 Oct;32(10):107308. doi: 10.1016/j.jstrokecerebrovasdis.2023.107308. Epub 2023 Aug 24.

Authors

Shyam Majmundar¹, Sameep Thapa², Elan S Miller¹, Rodney Bell¹, Robin Dharia¹, Diana Tzeng¹, Shaista Alam¹, Ruben Rhoades³

Affiliations

¹ Department of Neurology, Thomas Jefferson University, Philadelphia, PA, United States.
² Department of Medicine, Thomas Jefferson University, Philadelphia, PA, United States.
³ Division of Hematology, Department of Medicine, Thomas Jefferson University, Cardeza Foundation for Hematologic Research, Philadelphia, PA 19107, United States. Electronic address: Ruben.Rhoades@jefferson.edu.

PMID: 37633204
DOI: 10.1016/j.jstrokecerebrovasdis.2023.107308

Abstract

Background/purpose: Inherited thrombophilia testing in the acute inpatient setting is controversial and expensive, and rarely changes clinical management. We evaluated ordering patterns and results of inpatient inherited thrombophilia testing for patients who presented with an isolated acute ischemic stroke or transient ischemic attack (TIA) without concurrent venous thromboembolism.

Methods: We retrospectively analyzed patients admitted for acute ischemic stroke or TIA between January 1^st, 2019 and December 31^st, 2021 at Thomas Jefferson University Hospitals in Philadelphia, PA and who underwent inherited thrombophilia testing during the hospital admission. Charts were reviewed to determine stroke risk factors, test results, and clinical management.

Results: Among 2108 patients admitted for acute ischemic stroke or TIA (including branch and central retinal artery occlusions) during the study period, the study included 249 patients (median age 49.0 years, 50.2% female) who underwent inpatient testing for factor V Leiden, prothrombin G20210A variant, hyperhomocysteinemia, PAI-1 elevation, and deficiencies of protein C and S and antithrombin. 42.2% of patients had at least one abnormal test, and among the 1035 tests ordered, 14.3% resulted abnormal. However, 28% of abnormal tests were borderline positive antigen or activity assays that likely represented false positives. There was no significant difference in the likelihood of a positive test among patients without stroke risk factors vs those with risk factors (47.1% vs 40.9%, P = .428), nor any significant difference between those under vs over age 50 years (45.7% vs 38.3%, P = .237). No patients with an abnormal result had their clinical management changed as a result. Charges for the tests totaled $468,588 USD.

Conclusions: Inherited thrombophilia testing in the hospital immediately following isolated acute arterial ischemic stroke or TIA was associated with high rates of likely false positive results and was expensive. Positive results did not change clinical management in a single case.

Keywords: Hospital cost; Hypercoagulable state; Inherited thrombophilia; Ischemic stroke.

MeSH terms

Brain Ischemia* / etiology
Female
Humans
Ischemic Attack, Transient* / diagnosis
Ischemic Attack, Transient* / genetics
Ischemic Attack, Transient* / therapy
Ischemic Stroke* / complications
Male
Middle Aged
Retrospective Studies
Risk Factors
Stroke* / diagnosis
Stroke* / genetics
Stroke* / therapy
Thrombophilia* / complications
Thrombophilia* / diagnosis
Thrombophilia* / genetics

Supplementary concepts

Thrombophilia, hereditary