title: Congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
abstract: OBJECTIVE
  To evaluate the prevalence of congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
  
  
  METHODS
  Deficiencies in antithrombin (AT), proteins C (PC) and S (PS), and increased lipoprotein (a), and the presence of factor V (FV) G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) mutations were investigated.
  
  
  RESULTS
  Forty-eight patients (mean age, 3.4 years) were investigated. Of these patients, 23 had venous thrombosis, 22 had arterial thrombosis, and 3 had both. No patients had AT, PC or PS deficiency. FV G1691A mutation was present in 2 (7.6%) and 3 (12%) patients with venous and arterial thromboses, respectively. The prothrombin G20210A mutation was present in 1 (4%) patient with arterial thrombosis. Homozygous MTHFR C677T mutation was detected in 4 (18%) and 2 (9%) patients with venous and arterial thromboses, respectively. Increased lipoprotein (a) was present in 2 (10%) and 1 (4.5%) patients with venous and arterial thromboses, respectively. Regarding acquired risk factors, 79% of all thrombotic events were related to catheter usage. An underlying disease was present in 96% of the patients.
  
  
  CONCLUSIONS
  Compared to acquired risk factors, congenital prothrombotic disorders are rarely present in children with peripheral venous and arterial thromboses. These results do not support general screening of children with venous and arterial thromboses for congenital prothrombotic disorders.
authors.affiliation: Division of Hematology, University Children's Hospital, Zurich, Switzerland. manuela.albisetti@kispi.unizh.ch
authors.forename: Manuela
authors.initials: M
authors.lastname: Albisetti
authors.forename: Alexander
authors.initials: A
authors.lastname: Moeller
authors.forename: Katharina
authors.initials: K
authors.lastname: Waldvogel
authors.forename: Vera
authors.initials: V
authors.lastname: Bernet-Buettiker
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Cannizzaro
authors.forename: Alexia
authors.initials: A
authors.lastname: Anagnostopoulos
authors.forename: Christian
authors.initials: C
authors.lastname: Balmer
authors.forename: Markus
authors.initials: M
authors.lastname: Schmugge
mesh_terms: D000293:Adolescent; D001158:Arteries; D025861:Blood Coagulation Disorders, Inherited / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017270:Lipoprotein(a) / Q000097:blood; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D017354:Point Mutation; D015995:Prevalence; D020151:Protein C Deficiency / Q000453:epidemiology; D018455:Protein S Deficiency / Q000453:epidemiology; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000151:congenital / Q000453:epidemiology* / Q000235:genetics; D014680:Veins; D020246:Venous Thrombosis / Q000151:congenital / Q000453:epidemiology* / Q000235:genetics
chemical_list: D017270:Lipoprotein(a); D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)