Screening for inherited thrombophilias and prophylaxis of venous thromboembolism in pregnancy and puerperium

• Main Authors: Ana SCUTELNICU, Corina GICA, Radu BOTEZATU, Nicolae GICA, Anca Marina CIOBANU, Brindusa CIMPOCA, Gheorghe PELTECU, Anca Maria PANAITESCU
• Format: Article
• Language: English
• Published: Amaltea Medical Publishing House 2020-12-01
• Series: Romanian Journal of Medical Practice
• Subjects: pregnancy; puerperium; inherited thrombophilia; venous thromboembolism; prophylaxis
• Online Access: https://rjmp.com.ro/articles/2020.4/RJMP_2020_4_Art-06.pdf
• ISSN: 1842-8258; 2069-6108

Thrombophilias are a group of coagulation disorders associated with a predisposition to thrombotic events. They could be inherited (genetic) or acquired. The most encountered inherited thrombophilias are factor V Leiden (FVL), prothrombin gene mutation (G20210A) (PGM), protein S deficiency, protein C deficiency and antithrombin (AT) deficiency. Based upon the risk of thrombosis, there are two types of inherited thrombophilias, high risk and low risk. The high risk inherited thrombophilia includes antithrombin III deficiency, factor V Leiden homozygotes, prothrombin gene mutation and compound heterozygotes FVL and PGM. The low risk thrombophilia includes factor V Leiden heterozygote, PGM heterozygote, protein C deficiency and protein S deficiency. The incidence of all thromboembolic events is estimated to approximately 1-2 per 1000 pregnancies and about an equal number are identified antepartum and in the puerperium. Screening for thrombophilia in pregnancy is not universally recommended because of the low incidence of the condition and because it is not cost-effective. Some adverse pregnancy outcomes could be associated with some types of thrombophilia, but this association is weak and there is no reason to initiate extensive investigations or therapeutic measures. Both obstetricians and hematologists and women need to be correctly informed and avoid emotional decisions and unnecessary invasive treatments.