Successful Management of Refractory Obstetric Antiphospholipid Syndrome in a Pregnant Woman with Homozygous MTHFR Mutation: A Case Report and Literature Review

Abstract

Aims: To report the successful management and perinatal outcome of a high-risk pregnancy in a patient with Antiphospholipid Syndrome (APS) and a homozygous MTHFR mutation utilizing Enoxaparin therapy. Presentation of Case: A 35-year-old primipara with a history of five recurrent miscarriages presented with positive Cardiolipin IgM and a homozygous MTHFR mutation. The patient was managed with daily subcutaneous Enoxaparin (4000 UI) and low-dose aspirin. The pregnancy was complicated by Gestational Diabetes Mellitus and placental insufficiency, manifesting as severe Fetal Growth Restriction (FGR) and oligohydramnios. Due to breech presentation and fetal compromise, a cesarean section was performed at 35 weeks and 2 days, resulting in the delivery of a live female infant weighing 1800g. Discussion: This case illustrates the complexity of thrombophilia involving APS and MTHFR mutations. While Enoxaparin played a pivotal role in prolonging the pregnancy, the development of severe FGR indicates that microthrombosis or placental inflammation persisted despite anticoagulation. The patient required intensive monitoring to balance the risks of placental failure against prematurity. Conclusion: Enoxaparin therapy can successfully achieve a live birth in women with APS and MTHFR mutations. However, these pregnancies remain at high risk for placental insufficiency, necessitating strict surveillance and timely intervention to ensure optimal outcomes.