Clotting Disorder / Thrombophilia
Thrombophilia is an inherited or acquired condition that shifts the balance of the coagulation system toward clot formation, increasing the risk of pathological thrombosis. Inherited forms include Factor V Leiden, prothrombin G20210A mutation, antithrombin deficiency, protein C deficiency, protein S deficiency, and MTHFR variants associated with elevated homocysteine. The acquired form most relevant to reproductive medicine is antiphospholipid syndrome (APS), an autoimmune condition that generates antibodies against phospholipid-binding proteins.[75]
Thrombophilia is implicated in recurrent pregnancy loss and placental insufficiency. Thrombosis in the placental vasculature can impair blood flow during critical windows of placental development. Not all thrombophilias carry the same reproductive risk; the degree varies with the specific mutation, zygosity, and additional risk factors.[37][52]
Anticoagulation, when indicated, addresses a specific physiological mechanism: preventing thrombotic occlusion of placental vessels.[52] MTHFR variants deserve particular mention. They are common, often found incidentally, and their independent contribution to pregnancy loss remains debated. Methylated folate addresses homocysteine elevation when MTHFR variants contribute to hyperhomocysteinemia. The decision to treat requires individualized evaluation, not a reflex response to a lab result.
Thrombophilia evaluation is part of the workup for recurrent pregnancy loss in cause-focused reproductive care.
This content is for educational purposes only and does not constitute medical advice. Consult an RRM clinician or healthcare provider for guidance specific to your situation.