Clinical Impact of Thrombophilia Screening in Young Adults with Ischemic Stroke.

TitleClinical Impact of Thrombophilia Screening in Young Adults with Ischemic Stroke.
Publication TypeJournal Article
Year of Publication2019
AuthorsOmran SS, Lerario MP, Gialdini G, Merkler AE, Moya A, Chen ML, Kamel H, DeSancho M, Navi BB
JournalJ Stroke Cerebrovasc Dis
Date Published2019 Apr
KeywordsAdolescent, Adult, Age Factors, Aged, Autoantibodies, Biomarkers, Blood Coagulation, Blood Coagulation Tests, Brain Ischemia, Clinical Decision-Making, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Phenotype, Predictive Value of Tests, Prognosis, Retrospective Studies, Risk Assessment, Risk Factors, Serologic Tests, Stroke, Thrombophilia, Young Adult

OBJECTIVE: We evaluated the ability of genetic and serological testing to diagnose clinically relevant thrombophilias in young adults with ischemic stroke.

METHODS: We performed a retrospective cohort study of patients aged 18-65 years diagnosed with acute ischemic stroke at a comprehensive stroke center between 2011 and 2015 with laboratory testing for thrombophilia. The primary outcome was any positive thrombophilia screening test. The secondary outcome was a change in clinical management based on thrombophilia testing results. Logistic regression was used to assess whether the prespecified risk factors of age, sex, prior venous thromboembolism, family history of stroke, stroke subtype, and presence of patent foramen ovale were associated with outcomes.

RESULTS: Among 196 young ischemic stroke patients, at least 1 positive thrombophilia test was identified in 85 patients (43%; 95% CI, 36%-51%) and 16 (8%; 95% CI, 5%-13%) had a resultant change in management. Among 111 patients with cryptogenic strokes, 49 (44%) had an abnormal thrombophilia test and 9 (8%) had a change in management. After excluding cases of isolated hyperhomocysteinemia or methylenetetrahydrofolate reductase or Factor V Leiden gene mutation heterozygosity, the proportion of patients with an abnormal thrombophilia screen decreased to 24%. Prespecified risk factors were not significantly associated with positive thrombophilia testing or a change in management.

CONCLUSIONS: Two-of-five young patients with ischemic stroke who underwent thrombophilia screening at our institution had at least 1 positive test but only one-in-twelve had a resultant change in clinical management. Neither cryptogenic stroke subtype nor other studied clinical factors were associated with a prothrombotic state.

Alternate JournalJ Stroke Cerebrovasc Dis
PubMed ID30595511
PubMed Central IDPMC6441373
Grant ListK23 NS091395 / NS / NINDS NIH HHS / United States
R01 NS097443 / NS / NINDS NIH HHS / United States
UL1 TR002384 / TR / NCATS NIH HHS / United States
KL2 TR002385 / TR / NCATS NIH HHS / United States
K23 NS082367 / NS / NINDS NIH HHS / United States

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