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To Place or Not to Place an Epidural - A Case Report of Prothrombin, MTHFR , and Factor XI Deficiency in a Parturient
Abstract Number: RF6BI-64
Abstract Type: Case Report Case Series
Factor XI (FXI) deficiency is an autosomal recessive disorder that contributes to bleeding as thrombin cannot be generated. Bleeding tendency does not correlate well with factor levels, making the potential for bleeding unpredictable. Levels of factor XI and XIII naturally decrease during pregnancy, especially in 2nd and 3rd trimesters, while many other factors increase. Homozygotes have severe deficiency (< 20 IU/dL) while heterozygotes have a mild deficiency (20 – 70 IU/dL).
Methylene tetrahydrofolate reductase (MTHFR) is an enzyme that converts homocysteine to methionine. MTHFR deficiency has been linked to an increased risk of thromboembolism.
Prothrombin G20210A is a thrombin gene mutation of guanine to adenine at position 20210 that increases the risk of thromboembolism, similar to MTHFR deficiency
A 31-year-old G6P3 presented for anesthesia consultation with Prothrombin G20210A, MTFHR deficiency, and Factor XI deficiency to evaluate the safety of neuraxial anesthesia during labor and delivery.
The patient’s sister was found to carry Prothrombin G20210A after a loss of pregnancy at 6 months. Because of the sister’s mutation, the patient, father and remaining siblings were tested and found to carry the same mutation. The family denied a history of venous thromboembolism. Throughout her first pregnancy, the patient used enoxaparin for thromboprophylaxis. During her second pregnancy, thromboprophylaxis was used only during the first half and heparin was given postpartum. During her third pregnancy no thromboprophylaxis was given. The patient had 2 pregnancies complicated by early loss. During her prior 3 deliveries, the patient had epidurals placed. The only complication reported was a PDPH, which was treated with an EBP without complication.
Also during testing, the patient was found to be heterozygous for both MTHFR and FXI deficiency (E135X mutation), measuring 40% of normal levels. Since the patient was asymptomatic with no family history of venous thromboembolism, anticoagulation during pregnancy or postpartum was not recommended. Due to her slightly decreased Factor XI levels, factor replacement at delivery or prior to neuraxial anesthesia was deemed unnecessary given her comorbid hypercoagulable conditions. Hematology believed that the combination of her conditions could possibly reduce the risk of hemorrhage and venous thromboembolism, but to prove this more testing would be required. Anesthesia and OB teams were also alerted to the increased risk of postpartum hemorrhage with simultaneously higher risk for venous thromboembolism.
In a patient with asymptomatic Prothrombin G20210A and heterozygosity for MTHFR and FXI deficiency, thromboprophylaxis was not recommended during pregnancy or after delivery and neuraxial anesthesia was used safely during labor and delivery without need for factor replacement.
Mankowitz SKW, 2018. Consults in Obstetric Anesthesia, Springer, New York City, 699 p.