Shedding Light on Inherited Thrombophilias

Abstract

Physiologic changes of pregnancy result in a hypercoagulable state, placing the risk for venous thromboembolic events at 1 in 1600 births. Venous thromboembolic events are one of the leading causes of maternal mortality. A correlation among venous thromboembolic events, pregnancy complications, and inherited thrombophilia continues to be investigated. This article primarily focuses on the impact of inherited thrombophilias on pregnancy, labor, and birth and yet also addresses acquired thrombophilia. Prophylactic and therapeutic perinatal anticoagulation are lifesaving and pregnancy-sparing interventions. Interprofessional management of these high-risk pregnancies allows for increased surveillance to reduce perinatal morbidity and mortality.

Manejo de la terapia anticoagulante durante el embarazo

“…Las trombofilias se clasifican en adquiridas y heredadas 36 . Factores como la hipercoagulabilidad, una carencia de antitrombina III, proteína C o proteína S, son responsables del 20% de los episodios tromboembólicos recurrentes.…”

“…Factores como la hipercoagulabilidad, una carencia de antitrombina III, proteína C o proteína S, son responsables del 20% de los episodios tromboembólicos recurrentes. Se conoce que hasta en el 70% de los embarazos de pacientes con una deficiencia hereditaria de antitrombina III o déficit del factor V de Leiden pueden presentar complicaciones tromboembólicas, y hasta un tercio de las que presentan déficit de proteína C, hiperhomocisteinemia y los anticuerpos antifosfolípidos persistentes [36][37][38] .…”

“…Todas estas patologías representan un alto riesgo de complicaciones neonatales como perdida gestacional temprana/tardía, preeclampsia y abruptio de placenta 36,40 . Es por esto, que existe indicación para tamización de trombofilias en pacientes con factores de riesgo como: pérdida gestacional recurrente, preeclampsia grave, historia de muerte in útero o RCIU de causa no explicada [36][37][38] .…”

The Obstetric Complications in Women With Hereditary Thrombophilia

“…The major forms of hereditary thrombophilia, currently recognized as independent risk factors for venous thromboembolism (VTE), include the anomalies of the procoagulant factors – the homozygous or heterozygous G1691A mutation of the factor V Leiden (FVL) gene (activated protein C resistance), homozygous or heterozygous G20210A mutation of the prothrombin gene (coagulation factor II), endogenous deficiency of anti-coagulants – antithrombin (AT), protein C and protein S and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene (hyperhomocysteinemia). The most common forms of congenital thrombophilias are the heterozygous FVL G1691A and G20210A prothrombin gene mutations, while other congenital thrombophilias (AT deficiency, protein C deficiency and protein S deficiency) have a higher thrombogenic potential, but are less common [1,2,3,4,5].…”

“…The prevalence of FVL (G1691A) mutation is 1–15% in the general population [1] and 5–9% in the white Europeans, making it the most common congenital thrombophilia, covering approximately 40–50% of cases [2,6]. The mutation is almost absent in Africa and Asia, being present in 5.2% of white Americans and 3% of African Americans who are not recent immigrants.…”