Congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
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.
Albisetti
Manuela
M
Division of Hematology, University Children's Hospital, Zurich, Switzerland. manuela.albisetti@kispi.unizh.ch
Moeller
Alexander
A
Waldvogel
Katharina
K
Bernet-Buettiker
Vera
V
Cannizzaro
Vincenzo
V
Anagnostopoulos
Alexia
A
Balmer
Christian
C
Schmugge
Markus
M
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
D017270:Lipoprotein(a); D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)