Related Experiment Videos
Hypercoagulability and thrombosis
1Department of Oncology and Hematology, Presbyterian Hospital of Dallas, Texas.
Insights
Identifying common hereditary and acquired blood protein defects, such as antithrombin deficiency and anticardiolipin antibodies, is crucial for diagnosing unexplained thrombosis. Further investigation into rarer defects can aid in patient therapy and family screening.
Area of Science:
- Hematology
- Thrombosis Research
- Genetic Disorders
Background:
- Thrombosis is often linked to hereditary and acquired blood protein defects.
- Common hereditary defects include antithrombin, protein C, and protein S deficiencies.
- Acquired defects frequently involve anticardiolipin antibodies and lupus anticoagulant.
Purpose of the Study:
- To highlight the importance of identifying specific blood protein defects in patients with unexplained thrombosis.
- To guide the diagnostic approach by prioritizing common defects before rarer ones.
- To underscore the therapeutic and familial implications of diagnosing these defects.
Main Methods:
- Review of existing literature on hereditary and acquired thrombotic defects.
- Emphasis on the diagnostic hierarchy of protein defects.
- Discussion of implications for patient management and family screening.
Main Results:
- Common hereditary defects: antithrombin, protein C, and protein S deficiencies.
- Common acquired defects: anticardiolipin antibodies and lupus anticoagulant.
- Rarer defects to consider: HC-II, plasminogen or t-PA deficiency, dysfibrinogenemia, elevated PAI-1.
Conclusions:
- Prioritizing the investigation of common hereditary and acquired defects is essential for unexplained thrombosis.
- Identifying these defects impacts individual therapy and enables proactive family studies.
- Further research may reveal additional common defects, such as those related to activated protein C cofactor and PAI-1.
Abstract:
This article has stressed the common hereditary and acquired blood protein defects associated with thrombosis. The commonest hereditary defects appear to be antithrombin, protein C, and protein S deficiency, and the commonest 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 commoner defects are not found, the rarer defects, including HC-II, plasminogen or t-PA deficiency, dysfibrinogenemia, or elevated PAI-1, should next be sought. The incidence of activated protein C cofactor deficiency is not yet clear but may also represent a common defect. Likewise, PAI-1 defects may, with time, be shown to be quite common. 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.