Suggested approach to structured diagnostic evaluation of unexplained arterial thrombosis
| A. Is atherosclerosis the underlying problem? . |
|---|
| Atherosclerotic changes in imaging or pathology specimens? |
| Atherosclerosis risk factors present? |
| Obesity; diabetes mellitus; cigarette smoking; hypertension; high low-density lipoprotein cholesterol; low high-density lipoprotein cholesterol; high lipoprotein(a) |
| Family history of arterial problems in young relatives (<50 y of age) |
| A. Is atherosclerosis the underlying problem? . |
|---|
| Atherosclerotic changes in imaging or pathology specimens? |
| Atherosclerosis risk factors present? |
| Obesity; diabetes mellitus; cigarette smoking; hypertension; high low-density lipoprotein cholesterol; low high-density lipoprotein cholesterol; high lipoprotein(a) |
| Family history of arterial problems in young relatives (<50 y of age) |
| B. Has the heart been thoroughly evaluated as an embolic source? . |
|---|
| Atrial fibrillation–ECG, extended cardiac rhythm monitor |
| Patent foramen ovale–obtain cardiac echocardiogram: transthoracic with bubble study and Valsalva; if negative, consider transesophageal or transcranial Doppler |
| B. Has the heart been thoroughly evaluated as an embolic source? . |
|---|
| Atrial fibrillation–ECG, extended cardiac rhythm monitor |
| Patent foramen ovale–obtain cardiac echocardiogram: transthoracic with bubble study and Valsalva; if negative, consider transesophageal or transcranial Doppler |
| C. Other causes . |
|---|
| Is the patient on estrogen therapy (contraceptive pill, ring, or patch; hormone replacement therapy), other hormonal therapy, or prothrombotic cancer therapy? |
| Does the patient use amphetamines, cocaine, or anabolic steroids? |
| Is there evidence of Buerger disease (does patient smoke tobacco or cannabis)? |
| Could the patient have hyperviscosity or cryoglobulins? |
| Is there evidence of a rheumatologic or autoimmune disease? Consider laboratory workup for vasculitis and other immune disorders |
| Were anatomic abnormalities seen in artery leading to the ischemic area (web, fibromuscular dysplasia, dissection, vasculitis, external compression)? |
| Is there a suggestion of an infectious arteritis? |
| Does patient have symptoms of vasospastic disorder (Raynaud)? |
| C. Other causes . |
|---|
| Is the patient on estrogen therapy (contraceptive pill, ring, or patch; hormone replacement therapy), other hormonal therapy, or prothrombotic cancer therapy? |
| Does the patient use amphetamines, cocaine, or anabolic steroids? |
| Is there evidence of Buerger disease (does patient smoke tobacco or cannabis)? |
| Could the patient have hyperviscosity or cryoglobulins? |
| Is there evidence of a rheumatologic or autoimmune disease? Consider laboratory workup for vasculitis and other immune disorders |
| Were anatomic abnormalities seen in artery leading to the ischemic area (web, fibromuscular dysplasia, dissection, vasculitis, external compression)? |
| Is there a suggestion of an infectious arteritis? |
| Does patient have symptoms of vasospastic disorder (Raynaud)? |
| D. Thrombophilia workup for arterial events (also see Table 5) . |
|---|
| Hemoglobin and platelet count (are cytopenias or cytoses present as evidence of cancer, MPN, or PNH?) |
| Consider the following thrombophilias: |
| FVL, PT20210* |
| PC, PS, AT activities |
| APS evaluation: aCL IgG, IgM; aβ2GPI IgG, IgM; lupus anticoagulant |
| Homocysteine if <30 y of age (to discover homocystinuria) |
| MPN mutation testing if blood count abnormalities present or other evidence for an MPN; consider JAK-2 mutation even if no CBC abnormality present |
| Flow cytometry to assess for PNH if cytopenias or hemolysis present; consider even without such abnormalities |
| Do not test for MTHFR, PAI-1, tPA levels or polymorphisms, FVIII, fibrinogen, or phospholipid antibodies other than those mentioned above |
| D. Thrombophilia workup for arterial events (also see Table 5) . |
|---|
| Hemoglobin and platelet count (are cytopenias or cytoses present as evidence of cancer, MPN, or PNH?) |
| Consider the following thrombophilias: |
| FVL, PT20210* |
| PC, PS, AT activities |
| APS evaluation: aCL IgG, IgM; aβ2GPI IgG, IgM; lupus anticoagulant |
| Homocysteine if <30 y of age (to discover homocystinuria) |
| MPN mutation testing if blood count abnormalities present or other evidence for an MPN; consider JAK-2 mutation even if no CBC abnormality present |
| Flow cytometry to assess for PNH if cytopenias or hemolysis present; consider even without such abnormalities |
| Do not test for MTHFR, PAI-1, tPA levels or polymorphisms, FVIII, fibrinogen, or phospholipid antibodies other than those mentioned above |
PAI-1, plasminogen activator inhibitor-1.
Purpose of testing is to discover the homozygous of double heterozygous state (heterozygous FVL plus heterozygous PT20210).