Eclampsia and Neonatal Loss in a Patient With Primary Antiphospholipid Syndrome, Factor V Leiden, and Methylenetetrahydrofolate Reductase (MTHFR) Mutations: A Rare Thrombophilic Triad.

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by an increased risk of thrombosis and pregnancy complications, including placental insufficiency, preeclampsia, and fetal loss. The coexistence of APS with both factor V Leiden and methylenetetrahydrofolate reductase (MTHFR) mutations is exceptionally rare and may further elevate the risk of adverse outcomes. A 23-year-old primigravida developed eclampsia at eight months' gestation and underwent an emergency cesarean section; unfortunately, her newborn died a few days later. Laboratory evaluation confirmed APS with a positive lupus anticoagulant, anticardiolipin, and anti-β2 glycoprotein I, as well as the presence of factor V Leiden and MTHFR mutations. Hydroxychloroquine, aspirin, and low-molecular-weight heparin therapy were initiated. This case should encourage physicians to broaden their initial screening laboratory tests and consider implementing more comprehensive testing in patients who present with early and severe pre-eclampsia.