- Thrombophilia: any disorder associated with increased risk of venous thromboembolic disease; more appropriately called "hypercoagulable state" if not genetic, although terms often used interchangeably
- Common risk factors are: antiphospholipid antibodies, chronic DIC, essential thrombocythemia, heparin induced thrombocytopenia, hyperhomocysteinemia, immobility, increasing age, malignancy, nephrotic syndrome, obesity, oral contraceptives, paroxysmal nocturnal hemoglobinuria, polycythemia vera, post-operative state, pregnancy, prior thromboembolism, systemic lupus erythematosus, trauma
- Presence of more than one risk factor further increases risk (Arch Pathol Lab Med 2002;126:295)
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Initiation and propagation of blood coagulation
Activation of protein C by thrombin-thrombomodulin
Degradation of FVa and FVIIIa by APC
Blood coagulation and protein C anticoagulant system
Activation and degradation of normal FV and FV Leiden
20210G > A mutation in the prothrombin gene
Regulation of hemostasis
Balance of hemostasis
Genetic polymorphisms of various procoagulant proteins
Activated protein C (APC)
Transsulfuration pathway and metabolism of homocysteine
- 33 year old man with fatal pulmonary emboli associated with hypereosinophilia (J Clin Path 2004;57:541)
- 52 year old woman with portal vein thrombosis associated with myeloproliferative disorder (Arch Pathol Lab Med 2003;127:e385)
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Thrombi in major trunks of pulmonary artery and large thrombus near left iliac vein.
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Fig. 1/2: old, recanalized thrombi in portal veins;
Fig. 3: recanalization of portal vein webs with intimal tags;
Fig. 4: bone marrow is hypercellular with large, dysplastic, abnormally clustered megakaryocytes
