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Syndromes of hypercoagulability and thrombosis: a review
1Presbyterian Comprehensive Cancer Center, Presbyterian Hospital of Dallas, University of Texas, Southwestern Medical Center 75231.
Insights
This review highlights common hereditary and acquired blood protein defects linked to thrombosis. Identifying these deficiencies, like antithrombin deficiency or lupus anticoagulant, is crucial for patient therapy and family screening.
Area of Science:
- Hematology
- Thrombosis Research
- Genetics
Background:
- Thrombosis is often linked to inherited or acquired defects in blood proteins.
- Identifying these defects is key for effective treatment and preventative measures.
Purpose of the Study:
- To review common hereditary and acquired blood protein defects associated with thrombosis.
- To guide the diagnostic approach for unexplained thrombosis.
Main Methods:
- Literature review of hereditary and acquired thrombotic risk factors.
- Analysis of common and rare blood protein defects.
Main Results:
- Common hereditary defects include antithrombin, protein C, and protein S deficiencies.
- Common acquired defects involve anticardiolipin antibodies and lupus anticoagulant.
- Rarer defects include heparin cofactor II, plasminogen, tissue plasminogen activator deficiency, dysfibrinogenemia, and elevated PAI-1.
Conclusions:
- Prioritize testing for common defects (antithrombin, protein C, protein S, anticardiolipin antibodies, lupus anticoagulant) in unexplained thrombosis.
- Investigate rarer defects if common ones are absent.
- Diagnosis impacts individual therapy and family screening for at-risk individuals.
Abstract:
This review has stressed the common hereditary and acquired blood protein defects associated with thrombosis. The most common of the hereditary defects appear to be antithrombin, protein C, and protein S deficiency and the most common acquired defects are anticardiolipin antibodies and the lupus anticoagulant. Therefore these are the defects that should first be looked for in an individual with unexplained thrombosis. If these more common defects are not found, then the rarer defects, including heparin cofactor II, plasminogen or tissue plasminogen activator deficiency, dysfibrinogenemia, or elevated PAI-1 should next be sought. The importance of finding these defects has significant implications for therapy of the individual patient and for institution of family studies to identify, inform, and possibly treat others at risk. It is expected that as knowledge of hemostasis expands, more hereditary and acquired defects, such as elevated lipoprotein(a) or defects of extrinsic (tissue factor) pathway inhibitor may be associated with enhanced risks of thrombosis.