Introduction: We aimed to evaluate the ability of current genetic and serological testing to diagnose clinically relevant thrombophilic states in young adults with ischemic stroke.
Methods: We performed a retrospective cohort study of patients aged 18 to 65 years who presented to Weill Cornell Medical Center between 2011 and 2014 with an ischemic stroke and had laboratory testing for a hypercoagulable state within six months of the index stroke. A hypercoagulable state was diagnosed by the criteria listed in Table 1. The primary outcome was any positive thrombophilia test. The secondary outcome was a change in clinical management based on the thrombophilia testing, defined as a change in antithrombotic selection or patent foramen ovale (PFO) closure. Using Fisher’s exact or Mann-Whitney U tests, we assessed whether the following prespecified risk factors were associated with our outcomes: age, sex, prior venous thromboembolism, family history of stroke, stroke subtype, and presence of PFO.
Results: Of 146 ischemic stroke patients who met inclusion criteria, the mean age was 47 (±10) years and 47% were women. Of these patients, 61 (42.0%, 95% CI 33.7-49.9%) had at least one positive thrombophilia test and 8 (5.5%, 95% CI 1.7-9.2%) had a resultant change in management. A cryptogenic stroke subtype was documented in 87 patients, of whom 40 (46.0%, 95% CI 35.3-56.7%) had an abnormal hypercoagulability screen and 5 (5.7%, 95% CI 0.8-10.7%) had a change in management. There was no association between cryptogenic stroke subtype and a positive hypercoagulability test (p=0.2). No prespecified risk factors were associated with a positive hypercoagulability screen or a change in clinical management.
Conclusions: Hypercoagulability screening among young patients with cryptogenic stroke changed clinical management in roughly one of every twenty patients tested. Cryptogenic stroke subtype and other clinical factors were not associated with a positive hypercoagulable screen.