Hereditary and Acquired Hypercoagulability Clinical Presentation
- Author: Paul Schick, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP more...
History and Physical Examination
There are no specific clinical symptoms or signs directly attributable to acquired hypercoagulability or hereditary thrombophilic disorders. Rather, the clinical expressions of an underlying thrombophilia are predominantly venous thrombosis and pulmonary embolism.
Hereditary thrombophilia should be suspected in patients with a history of any of the following:
Recurrent venous thromboembolism
Venous thrombosis before age 40 years
A family history of venous thromboembolism
Thrombosis in unusual sites (eg, mesenteric vein, renal vein, hepatic, or cerebral thrombosis)
Purpura fulminans in infancy could suggest protein C deficiency. Deficiency of protein S or antithrombin III may also cause this disorder.
Thrombophilic disorders are usually associated with venous thrombosis. However, protein S, protein C, antithrombin deficiencies, and lupus anticoagulants have been associated with arterial thrombosis.
Patients with protein C and S deficiencies can develop warfarin-induced skin necrosis when placed on warfarin, since protein C and S are vitamin K–dependent factors and, hence are suppressed.
Antiphospholipid antibodies (lupus anticoagulants) occur in about 20% of patients with systemic lupus erythematosus (SLE), but they are also associated with other autoimmune diseases. In addition, these antibodies may occur in patients taking phenothiazines, phenytoin, hydralazine, quinine, amoxicillin, and oral contraceptives.
Clinical criteria for indicating the presence of lupus anticoagulants (Sapporo criteria for the antiphospholipid syndrome) are as follows:
One or more episodes of arterial, venous, or small-vessel thrombosis, affecting any organ or tissue
Pregnancy morbidity: The risk for maternal and fetal morbidity increases after the 10th week of pregnancy; fetal mortality in pregnancy can include spontaneous abortions, prematurity, and stillbirths
Three or more unexplained consecutive spontaneous abortions after the 10th week of gestation
The most common acquired causes for hypercoagulability are the following:
Oral contraceptives use
Hormone replacement therapy
Antiphospholipid antibodies (lupus anticoagulant) should also be considered.
Hereditary thrombophilias include the following:
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|Condition||Prevalence in General Population (%)||Relative Risk of VTE (%)||Relative Risk of Recurrent VTE (%)|
|Factor V Leiden
|Protein C deficiency
|Protein S deficiency
|VTE = Venous thromboembolism|