Hereditary antithrombin deficiency in pregnancy – severe thrombophilic disorder as a danger for mother and foetus

Authors: Čápová I. 1,2;  Salaj P. 1;  Hrachovinová I. 1
Authors‘ workplace: Centrum pro trombózu a hemostázu, Ústav hematologie a krevní transfuze, Praha 1;  Transfuzní a hematologické oddělení, Oblastí nemocnice Kolín a. s. 2
Published in: Ceska Gynekol 2021; 86(3): 175-182
doi: 10.48095/cccg2021175


Setting: In the article, we remember the role of antithrombin (AT) in hemostasis, escalation of AT-potential with heparin and difficulties with monitoring the effectiveness of LMWH therapy (low molecular weight heparin) in patients with AT deficiency. We pay most of our attention to hereditary AT deficiency and its thromboembolic risk in pregnancy.

Methods: In the introduction, the principle of AT function, its two main domains and the regulation of synthesis are cleared. We describe the causal mutations of hereditary AT deficiency in SERPINC1 gen and the relation to a thromboembolic risk. The general recommendations for patients with hereditary AT deficiency and pregnant women are mentioned. As the risk of thromboembolic disease is escalated in pregnancy, the LMWH should always be considered. There has been frequently observed that patients with AT deficiency do not elevate anti-Xa-levels when standard prophylactic LMWH doses are used. This fact well illustrates that heparin without AT may not inhibit the active coagulant factors efficiently enough. Therefore, if a high thromboembolic risk in the patient’s anamnesis is present, the LMWH dosing should be escalated. In individual cases, concomitant administration of an antithrombin concentrate to the heparin treatment is recommended at the time of delivery or in the case of deep venous thrombosis. In this article, three cases of unusual pregnancy in patients with different types of AT deficiency are reported. The case reports are summarized from the Department of Hematology at Hospital Kolín, the Centre of Hemostasis and Thrombosis at Institute of Hematology and Blood Transfusion in Prague and from cooperating obstetrical departments in the Czech Republic.

Results: We demonstrated the threat of hereditary AT deficiency in three case reports. In one case, the estimated risk of thromboembolism – type I of AT-deficiency (quantitative) – was in a good correlation with real peripartal complications. In the next two cases with different types of AT deficiency, we showed surprising courses of complicated pregnancies.

Conclusion: As it has been shown, it is not safe to estimate the risk of thromboembolism on the base of causal mutation for AT deficiency. For present clinical practice, we should still remember AT deficiency as a potentially very dangerous thromboembolic disorder for mother and fetus; thus, excellent cooperation of an obstetrician and a hematologist is necessary.

Publication ethics: The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for bio medical papers.

Conflict of interests: The authors declare they have no potential conflicts of interest concerning the drugs, products or services used in the study.

Acknowledgment: I hereby thank Peter Salaj, MD (the current head of the Center for Thrombosis and Hemostasis of the Institute of Hematology and Transfusion (ÚHKT)
in Prague) for inspiring comments on the creation of the article. I also thank the entire Center for Thrombosis and Hemostasis team and the head of the National Reference
Laboratory for Hemostasis Disorders at ÚHKT in Prague, RNDr. Ingrid Hrachovinová, PhD. My thanks also go to the head of the Transfusion and Hematology Department in Kolín,
Dagmar Chalupová, MD, and to her team.


antithrombin – Heparin – antithrombin deficiency – gen SERPINC1 – Thromboembolism – antithrombotic prophylaxis – anti-Xa – aPTT – disseminated intravascular coagulopathy – consumptive coagulopathy


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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