Hereditary antithrombin deficiency pilot project registry from the American Thrombosis and Hemostasis Network

J Thromb Haemost. 2024 Nov;22(11):3183-3190. doi: 10.1016/j.jtha.2024.07.026. Epub 2024 Aug 14.

Abstract

Background: Patients with hereditary antithrombin deficiency (HAD) have an increased risk of venous thromboembolism (VTE). The American Thrombosis and Hemostasis Network (ATHN) 12: HAD Pilot Project established a registry to collect data on patients with HAD.

Objectives: To inform current practice and serve as a platform to design a multicenter global registry for patients with HAD.

Methods: The HAD registry was designed in 2020 to identify 100 patients with HAD receiving care at ATHN-affiliated centers. Demographics, type of HAD, thrombotic events, risk factors, anticoagulants, and antithrombin (AT) concentrate administration were recorded.

Results: Ninety-four patients were included; 65% were females; 51% had type 1 HAD. Mean age at diagnosis was 26 years (SD, 18 years); 61% had VTE: 55% deep vein thrombosis and 27% pulmonary embolisms. Eight patients had arterial thrombosis. Recurrent thrombosis occurred in 58.6% of patients (44.8%) despite anticoagulation. The main risk factor for thrombosis in females was estrogen. Direct oral anticoagulants were prescribed in 30%, heparin in 34%, and warfarin in 32%. There were 139 pregnancies. Low-molecular-weight heparin was administered in 33% and AT concentrate in 19% and 11% prior to and after delivery, respectively. Twelve patients developed thrombosis in pregnancy. Seventy-nine patients underwent 239 surgeries or procedures, mainly gastrointestinal and vascular. Overall, 35% of participants received AT concentrate without adverse events.

Conclusion: In ATHN 12, VTE was the predominant manifestation, frequently recurrent. There was a trend toward using direct oral anticoagulants. Low-molecular-weight heparin was administered in one-third of pregnancies and AT concentrate in one-fifth without adverse events. These data should encourage prospective studies to optimize the management of these patients.

Keywords: anticoagulants; hereditary antithrombin deficiency; pregnancy; risk factors; thrombosis.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Anticoagulants* / adverse effects
  • Anticoagulants* / therapeutic use
  • Antithrombin III Deficiency* / blood
  • Antithrombin III Deficiency* / complications
  • Antithrombin III Deficiency* / diagnosis
  • Antithrombin III Deficiency* / drug therapy
  • Antithrombins / adverse effects
  • Child
  • Female
  • Hemostasis
  • Humans
  • Male
  • Middle Aged
  • Pilot Projects
  • Pregnancy
  • Pulmonary Embolism / blood
  • Pulmonary Embolism / drug therapy
  • Pulmonary Embolism / epidemiology
  • Recurrence
  • Registries*
  • Risk Factors
  • United States / epidemiology
  • Venous Thromboembolism* / blood
  • Venous Thromboembolism* / diagnosis
  • Venous Thromboembolism* / drug therapy
  • Venous Thromboembolism* / epidemiology
  • Venous Thrombosis / blood
  • Venous Thrombosis / diagnosis
  • Venous Thrombosis / drug therapy
  • Venous Thrombosis / epidemiology
  • Young Adult

Substances

  • Anticoagulants
  • Antithrombins