Abstract

Introduction: Congenital and acquired thrombophilias are associated with childhood arterial ischemic stroke (AIS), especially if multiple thrombophilias or other risk factors are present. The 2019 AHA guidelines recommend thrombophilia evaluation for all children with AIS, although the optimal extent of testing is unknown. The objective of this study was to determine the utility of routine thrombophilia screening in management of children following AIS. Methods: Thrombophilia screening sent as part of clinical care was collected from patients with childhood (1 month-18 years) AIS during an 11 year period at a single institution. Results: Factor V Leiden was sent on 56%, Prothrombin gene on 47%, homocysteine on 50%, lipoprotein a on 52%, antithrombin on 44%, protein C on 57%, protein S on 54%, and anticardiolipin antibodies on 51% of children. Five percent of patients were FVL heterogenous, and 1% were PT gene heterogenous. Three percent had mildly elevated homocysteine. Twenty percent had elevated lipoprotein a. Two patients had transiently low antithrombin, 4 had transiently low protein C activity, and one had transiently low protein S activity. One patient with sickle cell disease had persistently low protein S activity. One low protein S was not repeated. Ten patients had elevated ACLAs: 6 were transient, two had mildly elevated IgM that was not repeated, and 2 had known APLA syndrome. Two patients (cardioembolic stroke; moyamoya) had two thrombophilias. Conclusion: Rates of thrombophilias were consistent with expected incidence for the general population and did not predict stroke recurrence. Patients with elevated lipoprotein a and homocysteine were referred for treatment, otherwise results from the remainder of thrombophilia evaluation did not alter patient care in a population already known to be at risk for thrombosis.

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