title: Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis.
abstract: At present, different congenital defects in several proteins--antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG)--are known to be causes of hereditary predisposition to thrombosis (thrombophilia). The incidence of these hereditary disorders in our 204 patients (106 males and 98 females) with venous thromboembolism were 4% (three cases deficient in PC, three in PS, two in PLG, and one patient in AT III). Their families were studied. In all cases the disorders were inherited as an autosomal dominant trait. The first thrombotic episodes occurred at a age of below 40 years. There was no relationship between protein levels and the occurrence of thrombosis, although a significant relationship was observed between a positive history of thromboembolic disease and a diagnosis of protein deficiencies. We evaluated the differences between primary thrombosis and secondary thrombosis. The most common thrombotic sites were the deep veins. There were no differences between males and females. Evaluation of PC, PS, AT III, and PLG in patients with thromboembolic disease should be considered.
authors.affiliation: Departamento de Medicina, Hospital Clinico Universitario de Salamanca, Spain.
authors.forename: M D
authors.initials: MD
authors.lastname: Tabernero
authors.forename: J F
authors.initials: JF
authors.lastname: Tomas
authors.forename: I
authors.initials: I
authors.lastname: Alberca
authors.forename: A
authors.initials: A
authors.lastname: Orfao
authors.forename: A
authors.initials: A
authors.lastname: Lopez Borrasca
authors.forename: V
authors.initials: V
authors.lastname: Vicente
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000990:Antithrombin III / Q000032:analysis; D020152:Antithrombin III Deficiency; D002648:Child; D002675:Child, Preschool; D005260:Female; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000453:epidemiology / Q000473:pathology*; D006023:Glycoproteins / Q000097:blood / Q000172:deficiency; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010958:Plasminogen / Q000032:analysis / Q000172:deficiency; D011486:Protein C / Q000032:analysis; D020151:Protein C Deficiency; D017293:Protein S; D013924:Thrombophlebitis / Q000097:blood / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D006023:Glycoproteins; D011486:Protein C; D017293:Protein S; D000990:Antithrombin III; D010958:Plasminogen