Clinical Impact of Thrombophilia Screening in Young Adults with Ischemic Stroke

Abstract

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 2011-2015 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 one 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.

Role of Factor V R2 Haplotype and Common Thrombophilia Markers as Genetic Risk Factors for Ischemic Stroke

“…Although there is uncertainty about the utility of performing thrombophilia screening in stroke patients, such testing remains common in clinical practice, especially in young people. Consistent with the results of previous case-control studies and meta-analysis, 27-30 but conversely with those of more recently published studies, 10,31 in our series of stroke patients the common thrombophilic gene polymorphisms FV Leiden, PTH G20210A, MTHFR C677T, the physiological inhibitors of clotting factors (PC, PS, ATIII), and the acquired LAC were not related to the occurrence of IS. This finding supports the concept that in daily clinical practice, the search for inherited prothrombotic factors in patients with IS is rarely indicated.…”

“…These findings confirmed that hyperhomocysteinemia may be a transient consequence of the thrombotic event. 32 However, they seem to be in conflict with data from other reports, 28, 31, 33 in particular with the results of a Chinese study that showed no differences in serum homocysteine levels immediately after a stroke and after 3 months. 34 However, the stroke population examined by these authors was not homogeneous and included both IS and transient ischemic attacks.…”

“…This finding supports the concept that in daily clinical practice, the search for inherited prothrombotic factors in patients with IS is rarely indicated. 31…”

Ischemic stroke in a young adult

“…Sin embargo, a pesar de haberse encontrado una asociación significativa entre múltiples trombofilias hereditarias e ictus isquémico, ello no puede ser tomado como evidencia de una relación causal ni tampoco apoyar al testeo de trombofilia en la práctica clínica (13,14) . De esta manera, se necesitan más estudios para determinar si el estudio de una trombofilia en casos de ictus isquémicos o AIT es beneficioso.…”

Inherited thrombophilia and the risk of myocardial infarction: current evidence and uncertainties

“…Nevertheless, this laboratory diagnosis led to a change in patient management in approximately one-third of the cases. 87 According to the second concept of study design, in which AT-, PC-or PS-deficient cohorts are investigated for ATE, the majority of published reports focus on AT deficiency. In this field, large cohort studies of 5 study groups are available.…”