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Thrombophilia Profile
Blood
18 parameters
Report in 48Hrs
At Home
No Fasting Required
Details
Screening panel (Protein C/S, ATIII, Factor V Leiden).
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Parameters
- List of Tests
- Cardiolipin Antibody (ACL) - IgG
- Cardiolipin Antibody (ACL) - IgM
- Lupus Anticoagulants
- Protein S Activity
- Protein C Activity
- Anti Thrombin III Activity
- APCR - Activated Protein C Resistance
Thrombophilia Profile
- Why is it done?
- The Thrombophilia Profile is a comprehensive blood test panel designed to evaluate an individual's predisposition to excessive blood clotting and thrombosis formation
- It assesses both inherited and acquired thrombophilic states by measuring anticoagulant proteins and detecting antiphospholipid antibodies
- Ordered to investigate unexplained venous thromboembolism (DVT/PE) events, particularly in young patients without traditional risk factors
- Recommended for patients with recurrent miscarriages, as antiphospholipid antibodies (Cardiolipin Antibody and Lupus Anticoagulants) are associated with pregnancy complications
- Cardiolipin Antibody (IgG and IgM) tests detect antibodies associated with antiphospholipid syndrome (APS), a hypercoagulable disorder
- Lupus Anticoagulants identify another marker of APS that prolongs phospholipid-dependent coagulation tests
- Protein S Activity, Protein C Activity, and Anti-Thrombin III Activity measure natural anticoagulant proteins; deficiencies cause inherited thrombophilia
- APCR (Activated Protein C Resistance) screens for Factor V Leiden mutation, the most common inherited thrombophilia
- Indicated in family members of patients with diagnosed thrombophilia to identify at-risk individuals
- Useful for assessing thrombotic risk before major surgical procedures, oral contraceptive use, or hormone replacement therapy
- These tests work together to provide comprehensive evaluation of both anticoagulant pathways (protein-dependent and antibody-independent) and identify multiple genetic and acquired risk factors for thrombosis
- Normal Range
- Cardiolipin Antibody (ACL) - IgG: Negative or <12 GPL units/mL (GPL = Phospholipid units); >12 GPL units/mL considered positive and associated with thrombotic risk
- Cardiolipin Antibody (ACL) - IgM: Negative or <7 MPL units/mL (MPL = Phospholipid units); >7 MPL units/mL considered positive; IgM antibodies may indicate acute infection or early APS
- Lupus Anticoagulants: Negative (normal ratio <1.1-1.2 on mixing study); presence of anticoagulant activity indicates positive result and increases thrombotic risk
- Protein S Activity: 60-130% of normal activity is considered normal range; values <60% indicate deficiency and increased thrombotic risk
- Protein C Activity: 70-140% of normal is normal range; <70% indicates deficiency with thrombophilic implications
- Anti-Thrombin III Activity: 80-120% of normal activity is normal range; <80% indicates deficiency which significantly increases VTE risk
- APCR (Activated Protein C Resistance): Ratio >2.0 is normal; ratio <2.0 suggests Factor V Leiden or other resistance to APC; borderline 1.5-2.0 may warrant confirmatory testing
- Interpretation categories: Negative/Normal = no identified thrombophilic defect; Positive/Abnormal = identified risk factor present; Borderline = may require repeat testing or confirmatory molecular studies
- Interpretation
- Cardiolipin Antibody (ACL) - IgG: Elevated levels indicate presence of IgG antibodies against cardiolipin; single positive test has modest clinical significance; requires repeat testing 12 weeks apart for APS diagnosis; persistent positivity suggests higher risk for thromboembolism and obstetric complications
- Cardiolipin Antibody (ACL) - IgM: Elevated IgM suggests acute infection or early-stage APS; IgM-only positivity carries lower thrombotic risk than IgG or LAC; may indicate transient phenomenon with infections; clinical interpretation should account for accompanying IgG and LAC results
- Lupus Anticoagulants: Positive result is strong predictor of VTE and pregnancy complications; present in 0.4-1% of general population but in 30-40% of APS patients; paradoxically prolongs in vitro clotting tests despite causing thrombosis in vivo; requires confirmation with specialized mixing studies
- Lupus Anticoagulants: False positives can occur with active infections, warfarin therapy, and factor deficiencies; timing relative to acute illness affects interpretation; positive result requires clinical correlation and repeat testing after 12 weeks for diagnostic confirmation
- Protein S Activity: Decreased levels indicate Type 1 deficiency (reduced quantity and activity), Type 2 (dysfunctional protein), or Type 3 (free protein S reduced); heterozygous deficiency increases VTE risk 5-10 fold; homozygous deficiency causes neonatal purpura fulminans; acquired deficiency occurs in liver disease, DIC, and vitamin K deficiency
- Protein S Activity: Estrogen therapy and pregnancy lower normal values by 20-30%, potentially causing false-positive deficiency diagnosis; oral contraceptives significantly reduce levels; protein S acts as cofactor for Protein C in anticoagulation pathway
- Protein C Activity: Deficiency increases thrombotic risk; heterozygous deficiency confers 5-10 fold increased VTE risk; homozygous deficiency causes severe neonatal thrombotic disease requiring protein C replacement; acquired deficiency seen in vitamin K deficiency, liver disease, DIC, and sepsis
- Protein C Activity: Warfarin therapy initially lowers Protein C before other factors, causing temporary thrombotic paradox; testing should be deferred until warfarin discontinued 2 weeks or patient on stable anticoagulation; testing after acute thrombosis may be unreliable due to consumption
- Anti-Thrombin III Activity: Deficiency is one of most thrombophilic conditions, with homozygous deficiency incompatible with life; heterozygous deficiency increases VTE risk 50-100 fold; Type 1 deficiency shows reduced quantity and activity; Type 2 shows dysfunctional protein; Type 3 shows normal quantity but impaired heparin binding
- Anti-Thrombin III Activity: Acquired deficiency occurs during acute thrombosis (consumption), heparin therapy (therapeutic consumption), nephrotic syndrome (urinary loss), DIC, sepsis, and liver disease; testing interpretation requires clinical context and acute versus chronic assessment
- APCR (Activated Protein C Resistance): Decreased ratio indicates Factor V Leiden mutation (present in heterozygous form in 3-5% of Caucasian population, ~50% increase in VTE risk) or homozygous form (~10-30 fold VTE risk); other causes include oral contraceptive use, pregnancy, thrombophilia, and other inherited defects
- APCR (Activated Protein C Resistance): May be falsely normalized in Protein C deficiency; testing should ideally be performed when not on anticoagulation; abnormal APCR should be confirmed with direct Factor V mutation testing (genotyping) to distinguish heterozygous from homozygous Factor V Leiden
- Associated Organs
- Cardiolipin Antibody (IgG/IgM) and Lupus Anticoagulants: Primarily affect vascular system (blood vessels and heart); disease manifestations include deep vein thrombosis in lower extremities, pulmonary embolism in lungs, and stroke from arterial thrombosis in cerebral vessels
- Cardiolipin Antibody and Lupus Anticoagulants: Reproductive system significantly affected; antiphospholipid syndrome causes recurrent early pregnancy loss, preeclampsia, intrauterine growth restriction, and fetal loss in second/third trimester
- Cardiolipin Antibody and Lupus Anticoagulants: Liver can be affected with thrombosis of hepatic vessels and Budd-Chiari syndrome; kidney complications include thrombotic microangiopathy and antiphospholipid-associated nephropathy
- Protein S, Protein C, and Anti-Thrombin III Activities: These natural anticoagulants function in liver synthesis (vitamin K-dependent for Proteins S and C) and maintain blood fluid state throughout circulatory system
- Protein S, Protein C, and Anti-Thrombin III: Deficiencies predispose to thrombosis in veins throughout body including lower extremity deep veins, mesenteric veins, and cerebral sinuses; can cause pulmonary embolism when leg veins affected
- Protein C deficiency: Associated with neonatal purpura fulminans (skin necrosis affecting dermis and subcutaneous tissue); homozygous deficiency causes disseminated intravascular coagulation affecting multiple organs
- APCR/Factor V Leiden: Affects coagulation cascade in blood; increased risk for thrombosis in deep veins of legs, pelvic veins, and pulmonary circulation
- APCR/Factor V Leiden: Heterozygous carriers have increased risk for thrombosis in specific clinical contexts (surgery, immobilization, oral contraceptives, pregnancy); relatively lower risk than other thrombophilias in general population
- All thrombophilic conditions: Can affect heart function through paradoxical embolism via patent foramen ovale; can cause stroke through arterial thrombosis; systemic complications include organ infarction and multiorgan failure in catastrophic thrombotic events
- Follow-up Tests
- Cardiolipin Antibody (IgG/IgM): Positive results require repeat testing after 12 weeks to establish persistence; if initially positive, concurrent Lupus Anticoagulant testing recommended as part of APS diagnostic criteria (two of three tests required)
- Cardiolipin Antibody (IgG/IgM): Beta-2 glycoprotein I antibody testing may be ordered to strengthen APS diagnosis; anti-prothrombin antibodies can provide additional APS diagnostic support
- Lupus Anticoagulants: Positive results require confirmation with mixing study and reflex testing to exclude factor deficiencies; direct fluorescent antibody testing or ELISA confirmation may be needed
- Lupus Anticoagulants: Repeat testing after 12 weeks required for APS diagnosis; PT/INR, aPTT should be monitored if patient started on anticoagulation therapy
- Protein S Activity: If decreased, measure free Protein S and total Protein S to characterize deficiency type; perform liver function tests to assess synthetic function
- Protein S Activity: If deficient, genetic testing for PROS1 gene mutation useful for confirming inherited deficiency; testing should be repeated at least once when patient not on anticoagulation and not in acute thrombotic state
- Protein C Activity: If decreased, perform Protein C chromogenic assay and genetic testing for PROC gene mutations to establish inherited deficiency vs acquired
- Protein C Activity: Obtain PT/INR and vitamin K level to evaluate for vitamin K deficiency as acquired cause; assess liver function if synthetic dysfunction suspected
- Anti-Thrombin III Activity: If decreased, genetic testing for SERPINC1 gene mutations important for confirming inherited deficiency; measure Anti-Thrombin III antigen levels to characterize Type 1 vs Type 2 deficiency
- Anti-Thrombin III Activity: Heparin-binding assay recommended if deficient to detect Type IIHEp (heparin cofactor independent) variant; repeat testing after acute illness resolves to confirm inherited vs acquired deficiency
- APCR: If abnormal, confirmatory direct genetic testing for Factor V Leiden (DNA sequencing or allele-specific PCR) should be ordered to identify heterozygous vs homozygous status
- APCR: If borderline or indeterminate, consideration of testing for other genetic thrombophilias (Prothrombin G20210A mutation) should be made
- All abnormal results: Imaging studies (compression ultrasound, CT angiography) indicated if clinical suspicion for thrombotic event; D-dimer testing may support thromboembolism risk assessment
- Monitoring frequency: Annual reassessment recommended for identified deficiencies; more frequent monitoring if planning pregnancy, initiating oral contraceptives, or contemplating surgery
- Comprehensive metabolic panel and liver function tests useful to exclude secondary causes of abnormalities; antinuclear antibody (ANA) testing can help differentiate APS from systemic lupus erythematosus
- Fasting Required?
- Fasting: No - The Thrombophilia Profile does not require fasting; all individual tests can be performed on non-fasting blood samples
- Patient can consume normal diet and fluids prior to blood draw; meal intake does not affect test accuracy or result interpretation
- Medications: Warfarin (Coumadin) should ideally be held before testing or results interpreted on stable anticoagulation; heparin therapy requires timing adjustment - testing should be performed before heparin administration or using alternative methods
- Medications: Oral contraceptives and hormone replacement therapy can lower Protein S, Protein C, and Anti-Thrombin III; these medications should ideally be discontinued 4 weeks prior to testing for accurate baseline assessment of inherent deficiencies
- Medications: Aspirin, NSAIDs, and other antiplatelet agents do not affect thrombophilia panel results and need not be discontinued
- Timing considerations: Testing should not be performed during acute thrombotic event, acute infection, or during active anticoagulation with heparin; ideally delay testing 2 weeks after acute illness or acute thrombosis for more reliable results
- Pregnancy: Protein S levels naturally decrease 20-30% in pregnancy; testing interpretation requires pregnancy adjustment or should be deferred until postpartum (6-8 weeks after delivery) for accurate baseline assessment
- Sample collection: Blood sample placed in citrated tubes (sodium citrate 3.2% or 3.8%); proper tube filling ratio (1:9 blood to anticoagulant) essential for accurate results
- Sample processing: Specimens should be gently mixed immediately after collection and transported to laboratory within 24 hours; plasma should ideally be separated within 1 hour
- Multiple collection tubes: If drawing for multiple tests, use proper order of draw; citrated tubes typically drawn after serum tubes but before EDTA tubes
How our test process works!
