title: Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia.
abstract: Chronic thromboembolic pulmonary hypertension (CTEPH) is considered to be an extreme variant of pulmonary thromboembolism. The underlying mechanisms for the failure of thrombus resolution are still unclear. In looking for inherited thrombophilia, an association with a lupus anticoagulant has been described repeatedly, and single cases of anticoagulant deficiencies (ie, antithrombin [AT], protein C, and protein S) have been reported. We describe a young patient with type I AT deficiency, the heterozygous prothrombin G20210A mutation, and unilateral chronic thromboembolic pulmonary disease presenting after a single thrombotic event. Pulmonary vascular patency was restored successfully by surgical pulmonary thromboendarterectomy. This case is unique because unilateral CTEPH is extremely uncommon, and it illustrates the severe clinical sequelae of the cosegregation of inherited thrombophilic defects.
authors.affiliation: Intensive Care Unit, the Department of Internal Medicine I, Vienna University Hospital, Vienna, Austria. Klaus.Laczika@akh-wien.ac.at
authors.forename: Klaus
authors.initials: K
authors.lastname: Laczika
authors.forename: Irene Martha
authors.initials: IM
authors.lastname: Lang
authors.forename: Peter
authors.initials: P
authors.lastname: Quehenberger
authors.forename: Christine
authors.initials: C
authors.lastname: Mannhalter
authors.forename: Manfred
authors.initials: M
authors.lastname: Muhm
authors.forename: Walter
authors.initials: W
authors.lastname: Klepetko
authors.forename: Paul Alexander
authors.initials: PA
authors.lastname: Kyrle
mesh_terms: D000328:Adult; D000991:Antithrombins / Q000172:deficiency*; D002908:Chronic Disease; D017128:Embolectomy; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery
chemical_list: D000991:Antithrombins; D011516:Prothrombin