title: Management and outcome of pregnancies in women with antithrombin deficiency: a single-center experience and review of literature.
abstract: Women with antithrombin (AT) deficiency have an increased risk for pregnancy-associated venous thromboembolism (VTE) and adverse pregnancy outcome. AT deficiency is a rare thrombophilia with heterogeneous genetic background. Owing to the few cases reported in the literature, management strategies of pregnancy with AT deficiency are inconsistent. Our aim was to examine the type of the genetic defect, management, maternal, and pregnancy outcome in patients with hereditary AT deficiency. Five expectant mothers with AT deficiency were followed in our center to evaluate thrombotic events, and maternal and pregnancy outcomes. AT gene sequencing was performed in all cases, and levels of AT and anti-activated factor X were regularly measured to guide the risk-adopted anticoagulant prophylaxis. Three mothers had homozygous type II heparin-binding site mutations and two had heterozygous type I mutations of the gene encoding AT. Two women had additional factor V Leiden heterozygous mutations. Three maternal VTEs--four healthy newborns and five pregnancy losses--were observed. The risk of patients to VTE and adverse pregnancy outcome was found to associate with the homozygous type II heparin-binding site mutation of the AT gene. High risk of maternal VTE and frequent pregnancy complications were observed to associate with AT deficiency. Our results support the need of individualized, risk-adopted anticoagulant therapy in patients with AT deficiency.
authors.affiliation: aCenter of Thrombosis and Haemostasis, Institute of Internal Medicine bDepartment of Laboratory Medicine cClinical Research Center dDepartment of Obstetrics and Gynecology, Clinical Center, University of Debrecen, Debrecen, Hungary.
authors.forename: Péter
authors.initials: P
authors.lastname: Ilonczai
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Oláh
authors.forename: Anna
authors.initials: A
authors.lastname: Selmeczi
authors.forename: Adrienne
authors.initials: A
authors.lastname: Kerényi
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bereczky
authors.forename: Róbert
authors.initials: R
authors.lastname: Póka
authors.forename: Ágota
authors.initials: Á
authors.lastname: Schlammadinger
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Boda
mesh_terms: D000328:Adult; D020152:Antithrombin III Deficiency / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D011247:Pregnancy; D012189:Retrospective Studies; D016896:Treatment Outcome; D054556:Venous Thromboembolism / Q000188:drug therapy / Q000209:etiology*; D055815:Young Adult