title: High prevalence of congenital thrombophilia in patients with pregnancy-related or idiopathic venous thromboembolism/pulmonary embolism.
abstract: Congenital thrombophilia which is characterized by deficiencies in proteins such as antithrombin (AT), protein C (PC) and protein S (PS), is a major cause of venous thromboembolism (VTE). A total of 130 patients with VTE were evaluated for congenital thrombophilia based on the activity of AT, PC, or PS. Fifteen VTE patients with congenital AT deficiency (11.5 %), 16 with congenital PC deficiency (12.3 %) and eight with congenital PS deficiency (6.2 %) were diagnosed using DNA analysis. The frequency of congenital AT deficiency was significantly higher in subjects with pregnancy-related and idiopathic VTE than in those with VTE due to other causes, and congenital PC and PS deficiency were frequently associated with idiopathic VTE. Among the groups examined, the plasma levels of AT were the lowest in subjects with pregnancy-related VTE. Although our findings may have been influenced by some unintentional bias, congenital thrombophilia is nevertheless a major cause of VTE in pregnant patients as well as in young or middle-aged patients without any underlying diseases.
authors.affiliation: Central Laboratory, Mie University Hospital, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Ikejiri
authors.affiliation: Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan. wadahide@clin.medic.mie-u.ac.jp.
authors.forename: Hideo
authors.initials: H
authors.lastname: Wada
authors.affiliation: Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Norikazu
authors.initials: N
authors.lastname: Yamada
authors.affiliation: Central Laboratory, Mie University Hospital, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Fujimoto
authors.affiliation: Central Laboratory, Mie University Hospital, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Kaname
authors.initials: K
authors.lastname: Nakatani
authors.affiliation: Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Akimasa
authors.initials: A
authors.lastname: Matsuda
authors.affiliation: Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Yosihito
authors.initials: Y
authors.lastname: Ogihara
authors.affiliation: Blood Transfusion Service, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Matsumoto
authors.affiliation: Department of Obstetrics and Gynecology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kamimoto
authors.affiliation: Department of Obstetrics and Gynecology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Ikeda
authors.affiliation: Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Katayama
authors.affiliation: Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ito
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D058833:Antithrombin Proteins / Q000172:deficiency; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology*; D015995:Prevalence; D020151:Protein C Deficiency / Q000175:diagnosis; D018455:Protein S Deficiency / Q000175:diagnosis; D011655:Pulmonary Embolism / Q000209:etiology; D017422:Sequence Analysis, DNA; D019851:Thrombophilia / Q000150:complications* / Q000151:congenital*; D054556:Venous Thromboembolism / Q000209:etiology*
chemical_list: D058833:Antithrombin Proteins
keywords: AT; DVT; PC; PE; PS