thrombophilia


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  • Panel

    • hyperviscocity (CBC, fibrinogen, IgG)
    • APS workup (lupus aPTT, HPL, aCL, B2GPI)
    • HIT panel
    • PNH workup
    • protein C, S, antithrombin
    • thromboinflammatory: CRP, factor VIII
    • homocysteine
    • genetics: factor V Leiden, prothrombin G20210A

  • Hypercoagulable states

    • stasis, obesity, smoking
    • surgery, trauma
    • pregnancy, estrogen agonists (OCP, tamoxifen, ERT)
    • drugs: steroids
    • malignancy
    • renal dz: nephrotic syndrome, renal transplant, CKD
    • hyperviscocity, MPN, malignancy

  • Antibody mediated

  • Deficient anticoagulant

    • protein C deficiency
    • protein S deficiency
    • antithrombin deficiency

  • Procoagulant

    • APC resistance (90% is factor V Leiden)
      • functional assay = aPTT with APC / aPTT = normal > 2, homozygotes < 1.5, heterozygotes in between
      • false positives: elevated factor VIII, low protein S, prolonged baseline aPTT (anticoagulation, liver dz)
      • 2nd gen assay uses factor V deficient plasma and heparinase
      • mutation = G1691A in factor V gene
    • prothrombin G20210A mutation
    • hyperhomocysteinemia
      • acquired: deficiency (B12, folate, B6), renal failure, hypothyroid, RA, drugs
      • hereditary: MTHFR enzyme gene mutation
    • thromboinflammatory markers (if acute phase, postpone 6 months)
      • CRP
      • factor VIII
    • essential thrombocythemia
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