Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
OBJECTIVE
To determine the association between catheter-related thromboses and hereditary causes of thrombophilia, including the factor V Leiden mutation, deficiencies of protein C or protein S, or increased lipoprotein (a).


METHODS
To evaluate the incidence of genetic risk factors for familial thrombophilia in catheter-related thrombosis, 163 consecutively admitted infants and children (cardiac disease and catheter placement [C] n = 140; Broviac catheter [B] n = 23) were prospectively investigated. In addition, an age-matched, healthy control group undergoing elective surgery (S: n = 155) was investigated.


RESULTS
Heterozygous factor V Leiden mutation was diagnosed in 20 of the 318 study subjects (C: n = 5; B: n = 4; S: n = 11), homozygous factor V Leiden mutation was found in two subjects (C: n = 1; S: n = 1), protein C deficiency type I was diagnosed in nine subjects (C: n = 4; B: n = 1; S: n = 4), and five subjects showed increased lipoprotein (a) (C: n = 3; S: n = 2). The frequency of thrombosis (C: n = 13; B: n = 5) in patients with familial thrombophilia was significantly higher (p < 0.0001; chi square: 27.79) in the catheter groups (15 of 17 subjects) than in control subjects after minor elective surgery (none of 18). Fifteen of the 18 infants with thrombosis had congenital thrombophilia; two children with congenital thrombophilia did not have documented thrombosis, and three infants with vascular occlusion had no inherited predisposition to thrombophilia.


CONCLUSIONS
Genetic risk factors for familial thrombophilia play an important role in the manifestation of catheter-related thromboembolism in children.
Nowak-Göttl
U
U
Department of Pediatrics, University Hospital, Münster, Germany.
Dübbers
A
A
Kececioglu
D
D
Koch
H G
HG
Kotthoff
S
S
Runde
J
J
Vielhaber
H
H
D000293:Adolescent; D002405:Catheterization, Central Venous / Q000009:adverse effects*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017270:Lipoprotein(a) / Q000235:genetics*; D017354:Point Mutation; D011446:Prospective Studies; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D019851:Thrombophilia / Q000235:genetics*; D013924:Thrombophlebitis / Q000209:etiology*
D017270:Lipoprotein(a); D011486:Protein C; D005165:Factor V