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, and protein S deficiency. MTHFR variants are frequently grouped alongside these conditions, but they are not classified as a thrombophilia; their clinical relevance is to homocysteine and folate metabolism, not to the coagulation cascade itself. The acquired form most relevant to reproductive medicine is antiphospholipid syndrome (APS), an autoimmune condition that generates antibodies against phospholipid-binding proteins.
Thrombophilia, particularly in its inherited forms, is implicated in recurrent pregnancy loss and placental insufficiency. Thrombosis in the placental vasculature is one proposed mechanism linking inherited thrombophilia to impaired blood flow during critical windows of placental development and to adverse outcomes including preterm birth.[75] 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 are common findings on genetic panels, often incidental, 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.
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