title: [Antithrombin homozygous type II HBS deficiency (99Leu-Phe) associated with recurrent arterial thrombosis].
abstract: Antithrombin (AT) is a natural anticoagulant and serine protease inhibitor. Hereditary AT deficiencies are uncommon and are associated with a higher risk of venous thrombo-embolism (VTE) compared to other thrombophilias. They are either quantitative (type I) or qualitative (type II) and various mutations have been reported. The II HBS deficiency is caused by a defect in the heparin-binding region (HBS) of AT. This homozygous deficiency increases the risk of VTE. The association with arterial thrombosis is weak but a few cases have been reported. We report a 20-year-old female with recurring arterial thrombosis associated with an AT type II HBS deficiency, due to a homozygous mutation Leu99Phe. In young patients, with recurrent and unexplained arterial thrombosis, a biologic thrombophilia has to be comprehensively searched.
authors.affiliation: Service de médecine interne, CHU Hôtel-Dieu, 1 place Alexis-Ricordeau, Nantes cedex 1, France.
authors.forename: C
authors.initials: C
authors.lastname: Durant
authors.forename: C
authors.initials: C
authors.lastname: Ternisien
authors.forename: J
authors.initials: J
authors.lastname: Connault
authors.forename: M
authors.initials: M
authors.lastname: Saint-Jean
authors.forename: B
authors.initials: B
authors.lastname: Planchon
mesh_terms: D005260:Female; D006801:Humans; D009154:Mutation; D012008:Recurrence; D019851:Thrombophilia / Q000150:complications / Q000235:genetics; D013927:Thrombosis / Q000209:etiology*; D055815:Young Adult