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Chapter 13 - Inherited Thrombophilia

Published online by Cambridge University Press:  16 April 2025

By
Saskia Middeldorp
Edited by
Roy G. Farquharson ,
Mary D. Stephenson  and
Mariëtte Goddijn
Roy G. Farquharson
Affiliation:
Liverpool Women’s Hospital
Mary D. Stephenson
Affiliation:
University of Illinois, Chicago
Mariëtte Goddijn
Affiliation:
Amsterdam University Medical Centers
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Summary

Thrombophilia can be defined as laboratory abnormalities, usually in the coagulation system, that result in a hypercoagulable state and thus predispose to thrombosis. These abnormalities may be acquired or inherited. The most clearly established form of acquired thrombophilia is the antiphospholipid anti- body syndrome. This chapter focuses on inherited thrombophilia. The relevance of inherited thrombophilia in early pregnancy is manifested in an elevated risk of venous thromboembolism, a modestly increased risk of miscarriage, and a possible relation with fertility.

Keywords

ThrombophiliaFactor V LeidenProthrombin G20210A mutationProtein C deficiencyProtein S deficiencyAntithrombin deficiencyVenous thromboembolismAnticoagulantsLow-molecular-weight heparinAcetylsalicylic acid
Type
Chapter
Information
Early Pregnancy , pp. 122 - 136
Publisher: Cambridge University Press
Print publication year: 2025

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