Antithrombin deficiency as a still underdiagnosed thrombophilia: a primer for internists

Pol Arch Intern Med. 2020 Oct 29;130(10):868-877. doi: 10.20452/pamw.15371. Epub 2020 May 19.

Abstract

Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital antithrombin deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.

MeSH terms

  • Anticoagulants
  • Antithrombin III
  • Antithrombin III Deficiency* / diagnosis
  • Antithrombin III Deficiency* / genetics
  • Antithrombins
  • Humans
  • Thrombophilia* / diagnosis

Substances

  • Anticoagulants
  • Antithrombins
  • Antithrombin III