- 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, postoperative 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
