Navigating Pregnancy with Antithrombin Deficiency Clinical Challenges Genetic Insights and Therapeutic Strategies

Introduction

Antithrombin Deficiency and Pregnancy What You Need to Know

  • Antithrombin is a critical natural anticoagulant produced in the liver.
  • Mutations in the SERPINC1 gene result in either Type I (reduced production) or Type II (impaired function) deficiencies.
  • Even a 50% reduction in antithrombin levels increases thrombotic risk substantially.

Pregnancy Complications

Women with antithrombin deficiency face higher risks of:

  • Venous thromboembolism (VTE)
  • Recurrent pregnancy loss and miscarriage
  • Intrauterine growth restriction (IUGR)
  • Stillbirth and placental abruption
  • Preeclampsia and HELLP syndrome

Therapeutic Interventions Prevention is Paramount

  • Diagnosis involves evaluating antithrombin levels through immunologic and functional assays.
  • Genetic testing is recommended when lab values are ambiguous.
  • Continuous monitoring of coagulation markers is essential throughout gestation.

Management Strategy

  • Begin low-molecular-weight heparin (LMWH) therapy when planning pregnancy.
  • AT concentrate infusions can be combined with LMWH to stabilize antithrombin levels.
  • Postpartum anticoagulation is crucial due to the heightened risk of VTE.

Clinical Observations What the Literature Shows

  • Case reviews show that with appropriate intervention (heparin + AT concentrate), most women safely deliver healthy infants.
  • In untreated cases, up to 70% risk of thromboembolic events has been observed.
  • Tabled literature evidence reveals both successes and pregnancy terminationsemphasizing the need for proactive care.

Why This Matters to Practitioners and Patients

Antithrombin deficiency is rare but critical to identify. With increasing awareness and early testing, obstetricians can improve outcomes significantly.

  • Women with a family history of thrombosis should undergo thrombophilia screening.
  • Those affected must receive personalized treatment protocols.
  • Understanding the genetic basis mutations like rs2227589) empowers clinicians to anticipate risks.

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