Thrombophilia Testing After Ischemic Stroke

Abstract

Thrombophilia testing is frequently performed after an ischemic stroke, particularly when cryptogenic. However, there is minimal evidence supporting a significant association between most conditions assessed through thrombophilia testing and ischemic stroke, and the rationale for thrombophilia testing in many clinical situations remains uncertain. In this topical review, we review and contextualize the existing data on the risks, predictors, and outcomes of thrombophilic conditions in patients with ischemic stroke. We report that inherited thrombophilias have an uncertain relationship with ischemic stroke. Conversely, antiphospholipid syndrome, an acquired immune-mediated thrombophilia, seems to be a strong risk factor for arterial thromboembolic events, including ischemic stroke, and especially among young patients. Our findings suggest that certain circumstances may warrant targeted thrombophilia testing, such as stroke in the young, cryptogenic stroke, and high estrogen states. Future prospective studies should investigate the utility and cost effectiveness of thrombophilia testing in various stroke settings, including among patients with patent foramen ovale; as well as the optimal secondary stroke prevention regimen in patients with confirmed thrombophilia, particularly if no other potential stroke mechanism is identified.

Osteonecrosis of the Jaws in Patients with Hereditary Thrombophilia/Hypofibrinolysis—From Pathophysiology to Therapeutic Implications

“…APS is a strong risk factor for both venous [ 186 , 187 ] and arterial thromboembolic events, including ischemic stroke [ 188 ] and myocardial infarction [ 189 ]. In the largest study focusing on thrombophilia/hypofibrinolysis prevalence in patients with idiopathic osteonecrosis, high levels of anticardiolipin antibodies (ACLA) significantly correlated with the presence of bone disease [ 105 ].…”

Transcatheter Patent Foramen Ovale Closure in Stroke Patients with Thrombophilia: Current Status and Future Perspectives

“…Thrombophilia is defined as an abnormality of the coagulation or fibrinolytic system that results in a hypercoagulable state (HCS) increasing the risk of venous or arterial intravascular thrombus and thromboembolic events. 2,3,12,13 Thrombophilia types and classification…”

“…The prevalence of a specific type of thrombophilia in the general population varies greatly in the literature, ranging from 0.1% to 20% depending on different factors, such as definition, tests used for diagnosis, use of confirmatory tests, etc. 2,3 The reported increased risk of thromboembolic events in thrombophilia patients has been highly variable, ranging from 0.3-to 100-fold, varying according to several factors such as the type of thrombophilia, carrier status (homozygous vs. heterozygous), reversibility, and the number of thrombophilia dis- The timing for screening depends on the type of test and the timing of the clinical event. For genetic mutations, the test can be performed at any time, but for functional or antibody tests, these should be ideally performed 1 to 2 months after the thrombotic clinical event to avoid false results in the initial test.…”

“…orders. 2 The classification, prevalence, and estimated risk, alongside their inherited or acquired forms for the types of thrombophilias related to a PFO-associated stroke and their supporting evidence are shown in Table 1. [2][3][4]10,[14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] Role of patent foramen ovale in systemic thromboembolism…”

“…This has been extensively demonstrated in large randomized clinical trials which excluded a significant proportion of patients who could have benefited from percutaneous PFO closure due to coexisting potential confounders such as additional thromboembolic risk factors, namely thrombophilia. The prevalence of thrombophilia in the general population ranges between 0.1% and 20% [ 2 , 3 ], and the prevalence of PFO from 20% to 34% [ 4 ]. Interestingly, the prevalence of both conditions is higher in stroke patients compared to the general population, and both have been associated with a higher risk of cerebrovascular events [ 5 ].…”