Journal of Blood Medicine (Oct 2022)
Five Challenging Cases of Hereditary Antithrombin Deficiency Characterized by Thrombosis or Complicated Pregnancy
Abstract
Jonathan C Roberts,1 Annette von Drygalski,2 Jenny Y Zhou,2 George M Rodgers,3 Kristin Ansteatt,1 Michael D Tarantino1 1Bleeding & Clotting Disorders Institute, University of Illinois College of Medicine – Peoria, Peoria, IL, USA; 2Hemophilia and Thrombosis Treatment Center, University of California at San Diego, San Diego, CA, USA; 3Division of Hematology and Hematologic Malignancies, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USACorrespondence: Michael D Tarantino, The Bleeding and Clotting Disorders Institute, University of Illinois College of Medicine – Peoria, 427 West Northmoor Road, Peoria, IL, 61614, USA, Tel +1 309-692-5337, Email [email protected]: Hereditary antithrombin deficiency (ATD) is a rare autosomal dominant condition (estimated prevalence 1:500– 1:5000). Most ATD patients have AT activity levels 40– 60% of normal. We present treatments for venous thromboembolism (VTE) in five cases of hereditary ATD. Four patients had a family history of ATD, and one had a de novo mutation. The majority of patients had a VTE while on prophylactic anticoagulation. AT concentrate augmentation was added in these cases to treat the VTE and for prophylaxis against further episodes. Two patients had significant bleeding events, one had permanent physical sequelae. Two of the patients were pregnant. VTE is a common cause of morbidity and mortality during pregnancy. Although low molecular weight heparins are the drugs of choice during pregnancy, this treatment was inadequate in one patient (developed VTE on therapy). These cases emphasize the need to screen for ATD in young patients (< 55 years) presenting with VTE. AT augmentation therapy may be necessary in patients inadequately treated with conventional anticoagulants. Careful monitoring and individualized care are needed in ATD patients, especially those with demonstrated bleeding tendencies.Keywords: clotting disorders, venous thromboembolism, anticoagulation, bleeding tendencies
