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Thrombophilia: How To Test? How To Manage?

By Julie Hambleton, MD

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Table 3Laboratory Characteristics and Common Pitfalls
AT Levels
Functional assay widely available
Levels decrease with liver disease, DIC, heparin therapy (acutely), and nephrotic syndrome
Levels may increase with warfarin therapy

PC Levels

Functional assay widely available
Levels decrease with liver disease, DIC, ARDS, warfarin
PS Levels
Enzyme-linked immunosorbent assay–based test used to measure both total and free PS is currently the most reliable assay
Functional assay less reliable
Levels decrease with liver disease, DIC, warfarin
Excessive binding of PS to C4b-BP may occur in states of acute or chronic inflammation (eg, systemic lupus erythematosus, nephrosis, pregnancy)
Factor V Leiden
Polymerase chain reaction–based assay is preferred (loss of an enzyme restriction site)
Activated protein C (APC) ratio: activated partial thromboplastin time (aPTT) [+ APC] / aPTT [– APC]
Normalize to reference plasma
Affected individual's normalized ratio < 0.84
Affected by anticoagulation
Hyperhomocysteinemia
Plasma homocysteine levels: baseline fasting state ± postmethionine load
DNA-based testing for MTHFR polymorphism
Prothrombin 20210
DNA-based test for polymorphism
Prothrombin level (factor II activity) insensitive

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