title: [Hereditary thrombophilia testing and its therapeutic impact on venous thromboembolism disease: Results from a retrospective single-center study of 162 patients].
abstract: BACKGROUND
  Venous thromboembolic disease is a multifactorial, frequently recurrent pathology, whose treatment is based on anticoagulation. As part of the etiological investigation, screening for an inherited thrombophilia is framed by French guidelines published in 2009. The aim of the study is to assess the contribution of inherited thrombophilias testing in common practice.
  
  
  METHODS
  This is a retrospective single-center observational study. Over a period of a year, all records of patients who were screened for a hereditary thrombophilia were analyzed. The conformity of the indication of hereditary thrombophilia workup in balance with the guidelines, its completeness and therapeutic impact were studied.
  
  
  RESULTS
  Of the 494 records analyzed, 225 were related to venous thromboembolism. Among them, there were 162 pulmonary embolisms or deep vein thrombosis of the lower limbs. In this subgroup, 57 % of records complied with guidelines and 69 % were complete. Thirty-four thrombophilias were highlighted: 4 protein S deficiencies, 1 protein C deficiency, 4 combined deficiencies, 17 factor V Leiden mutations and 8 factor II G20210A mutations. For one patient, hereditary thrombophilia diagnosis had profoundly changed the curative therapeutic approach.
  
  
  CONCLUSIONS
  Adherence to French guidelines remains limited. In clinical practice, diagnosis of hereditary thrombophilia has little impact on the curative therapeutic approach in venous thromboembolic disease.
authors.affiliation: Service de médecine interne, CHU hôpital Sud, 16, boulevard de Bulgarie, 35203 Rennes, France. Electronic address: jeansebastien.allain@chu-rennes.fr.
authors.forename: J-S
authors.initials: JS
authors.lastname: Allain
authors.affiliation: Unité d'hémostase, CHU de Pontchaillou, 2, rue Henri-le-Guilloux, 35000 Rennes, France.
authors.forename: P
authors.initials: P
authors.lastname: Gueret
authors.affiliation: Service de médecine interne, CHU hôpital Sud, 16, boulevard de Bulgarie, 35203 Rennes, France.
authors.forename: T
authors.initials: T
authors.lastname: Le Gallou
authors.affiliation: Service de médecine interne, CHU hôpital Sud, 16, boulevard de Bulgarie, 35203 Rennes, France.
authors.forename: C
authors.initials: C
authors.lastname: Cazalets
authors.affiliation: Service de médecine interne, CHU hôpital Sud, 16, boulevard de Bulgarie, 35203 Rennes, France.
authors.forename: A
authors.initials: A
authors.lastname: Lescoat
authors.affiliation: Service de médecine interne, CHU hôpital Sud, 16, boulevard de Bulgarie, 35203 Rennes, France.
authors.forename: P
authors.initials: P
authors.lastname: Jego
mesh_terms: D000328:Adult; D005260:Female; D019983:Guideline Adherence; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D020151:Protein C Deficiency / Q000150:complications / Q000175:diagnosis; D018455:Protein S Deficiency / Q000150:complications / Q000175:diagnosis; D012189:Retrospective Studies; D019851:Thrombophilia / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D054556:Venous Thromboembolism / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D020246:Venous Thrombosis / Q000150:complications / Q000175:diagnosis
keywords: Guideline adherence; Hereditary thrombophilia; Maladie thromboembolique veineuse; Observance des recommandations; Pratiques professionnelles; Professional practice; Screening; Thrombophilie héréditaire; Venous thromboembolism