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Inherited thrombophilic states

A K Rao¹, R Kaplan, S Sheth

¹Division of Hematology and Thromboembolic Diseases and the Sol Sherry Thrombosis Research Center, Temple University School of Medicine, Philadelphia, PA 19140, USA.

Seminars in Thrombosis and Hemostasis

|December 5, 1998

Summary

Inherited thrombophilic states increase the risk of venous thromboembolism (VTE). Understanding these genetic factors is crucial for managing VTE risk, especially during pregnancy or immobilization.

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Area of Science:

Hematology
Genetics
Vascular Medicine

Background:

Thrombophilic states are conditions that elevate the risk of blood clots (thromboembolism).
Inherited thrombophilias involve genetic defects in natural anticoagulant or fibrinolytic systems.
These include Factor V Leiden (resistance to activated protein C) and deficiencies in antithrombin, protein C, and protein S.

Purpose of the Study:

To review inherited thrombophilic states and their association with venous thromboembolism (VTE).
To discuss the risks of VTE in individuals with inherited thrombophilias.
To present guidelines for the diagnosis and management of these conditions.

Main Methods:

Literature review of inherited thrombophilic states.
Analysis of VTE risk factors associated with genetic abnormalities.

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Synthesis of current diagnostic and management guidelines.

Main Results:

Key inherited thrombophilias identified include Factor V Leiden, protein C, protein S, and antithrombin deficiencies.
Most inherited thrombophilias are linked to venous rather than arterial thrombosis.
Approximately 50% of VTE events in affected individuals occur alongside other predisposing factors like surgery or pregnancy.

Conclusions:

Inherited thrombophilias represent significant risk factors for VTE.
Diagnosis and management strategies are essential for mitigating VTE risk.
Further research into less common thrombophilic abnormalities and their clinical impact is warranted.