Summary of evidence for thrombophilia testing practices and considerations for anticoagulation vs antiplatelet therapy
| Thrombophilia . | Summary of evidence . | Testing . | Anticoagulation vs antiplatelet . | |
|---|---|---|---|---|
| FVL | Heterozygous | Evidence against association with MI, CAD, PVD in all-comers. Small association with stroke in all-comers and MI in patients <45-55 y; clinical significance unclear | Consider testing to identify homozygous FVL or double heterozygous FVL/PT | No influence |
| Homozygous | Insufficient data to clearly identify association with arterial thrombosis | Anticoagulation and/or antiplatelet therapy could be considered | ||
| PT20210 | Heterozygous | Small association with MI, CAD, stroke; clinical significance unclear. Evidence against association with PVD. | Consider testing to identify homozygous PT or double heterozygous FVL/PT | No influence |
| Homozygous | Insufficient data to clearly identify association with arterial thrombosis | Anticoagulation and/or antiplatelet therapy could be considered | ||
| PC | Moderate association with MI, stroke, TIA, PVD in younger patients (<55 y) | Consider testing in patients <55 y | Anticoagulation and/or antiplatelet therapy could be considered | |
| PS | ||||
| AT | Insufficient data to identify association with arterial thrombosis | Consider testing in patients <55 y. Testing based on expert guidelines66 | Anticoagulation and/or antiplatelet therapy could be considered | |
| APS | Proven association with arterial thrombosis | Recommended in patients with no etiology identified. Testing based on expert guidelines67 | Some experts favor anticoagulation; antiplatelet and/or anticoagulation could be considered; initial data suggest DOACs inferior to warfarin | |
| FVIII | Inconsistent correlation with arterial thrombosis | Not recommended | No influence | |
| Homocysteine | Slight association with CAD, stroke; however, no benefit of therapy to lower levels | Consider testing only in patients <30 y if concern for homocystinuria | No influence | |
| MTHFR* | No consistent association with arterial thrombosis | Not recommended | No influence | |
| Thrombophilia . | Summary of evidence . | Testing . | Anticoagulation vs antiplatelet . | |
|---|---|---|---|---|
| FVL | Heterozygous | Evidence against association with MI, CAD, PVD in all-comers. Small association with stroke in all-comers and MI in patients <45-55 y; clinical significance unclear | Consider testing to identify homozygous FVL or double heterozygous FVL/PT | No influence |
| Homozygous | Insufficient data to clearly identify association with arterial thrombosis | Anticoagulation and/or antiplatelet therapy could be considered | ||
| PT20210 | Heterozygous | Small association with MI, CAD, stroke; clinical significance unclear. Evidence against association with PVD. | Consider testing to identify homozygous PT or double heterozygous FVL/PT | No influence |
| Homozygous | Insufficient data to clearly identify association with arterial thrombosis | Anticoagulation and/or antiplatelet therapy could be considered | ||
| PC | Moderate association with MI, stroke, TIA, PVD in younger patients (<55 y) | Consider testing in patients <55 y | Anticoagulation and/or antiplatelet therapy could be considered | |
| PS | ||||
| AT | Insufficient data to identify association with arterial thrombosis | Consider testing in patients <55 y. Testing based on expert guidelines66 | Anticoagulation and/or antiplatelet therapy could be considered | |
| APS | Proven association with arterial thrombosis | Recommended in patients with no etiology identified. Testing based on expert guidelines67 | Some experts favor anticoagulation; antiplatelet and/or anticoagulation could be considered; initial data suggest DOACs inferior to warfarin | |
| FVIII | Inconsistent correlation with arterial thrombosis | Not recommended | No influence | |
| Homocysteine | Slight association with CAD, stroke; however, no benefit of therapy to lower levels | Consider testing only in patients <30 y if concern for homocystinuria | No influence | |
| MTHFR* | No consistent association with arterial thrombosis | Not recommended | No influence | |
CAD, coronary artery disease; DOAC, direct oral anticoagulant; MI, myocardial infarction; PVD, peripheral vascular disease; TIA, transient ischemic attack.
MTHFR polymorphisms are not considered to be a thrombophilia.