U. Nowakgottl et al., FACTOR-V-LEIDEN, PROTEIN-C, AND LIPOPROTEIN (A) IN CATHETER-RELATED THROMBOSIS IN CHILDHOOD - A PROSPECTIVE-STUDY, The Journal of pediatrics, 131(4), 1997, pp. 608-612
Objective: To determine the association between catheter-related throm
boses and hereditary causes of thrombophilia, including the factor V L
eiden mutation, deficiencies of protein C or protein S, or increased l
ipoprotein (a). Study design: To evaluate the incidence of genetic ris
k factors for familial thrombophilia in catheter-related thrombosis, 1
63 consecutively admitted infants and children (cardiac disease and ca
theter placement [C] n = 140; Broviac catheter [B] n = 23) were prospe
ctively investigated. In addition, an age-matched, healthy control gro
up 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 Le
iden 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:,2 = 5) in p
atients with familial thrombophilia was significantly higher (p < 0.00
01; chi square: 27.79) in the catheter groups (15 of 17 subjects) than
in control subjects after minor elective surgery (none of 18). Fiftee
n of the 18 infants with thrombosis had congenital thrombophilia; two
children with congenital thrombophilia did not have documented thrombo
sis, and three infants with vascular occlusion had no inherited predis
position to thrombophilia. Conclusions: Genetic risk factors for famil
ial thrombophilia play an important role in the manifestation of cathe
ter-related thromboembolism in children.