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Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study
U Nowak-Göttl1, A Dübbers, D Kececioglu
1Department of Pediatrics, University Hospital, Münster, Germany.
Insights
Hereditary thrombophilia significantly increases the risk of catheter-related thrombosis in children. Genetic factors like factor V Leiden mutation are key contributors to these dangerous blood clots in pediatric patients.
Area of Science:
- Pediatric Thrombosis Research
- Genetics of Coagulation Disorders
- Vascular Access Complications
Background:
- Catheter-related thrombosis is a serious complication in pediatric patients, particularly those with cardiac disease.
- Hereditary thrombophilia encompasses genetic conditions predisposing individuals to blood clots, including factor V Leiden mutation, protein C/S deficiencies, and elevated lipoprotein (a).
Purpose of the Study:
- To investigate the association between catheter-related thromboses and inherited thrombophilia in pediatric patients.
- To determine the incidence of specific genetic risk factors for thrombophilia in children experiencing catheter-related thrombosis.
Main Methods:
- Prospective investigation of 163 infants and children undergoing catheter placement (cardiac disease or Broviac catheter).
- Inclusion of an age-matched control group (n=155) of healthy children undergoing elective surgery.
- Screening for genetic thrombophilia risk factors: factor V Leiden mutation, protein C deficiency, protein S deficiency, and increased lipoprotein (a).
Main Results:
- The prevalence of heterozygous factor V Leiden mutation was 20/318, homozygous factor V Leiden mutation in 2/318, protein C deficiency in 9/318, and elevated lipoprotein (a) in 5/318 subjects.
- Catheterized patients with familial thrombophilia showed a significantly higher frequency of thrombosis (15/17) compared to control subjects (0/18).
- Fifteen out of 18 infants with thrombosis had congenital thrombophilia, highlighting the strong link between genetic predisposition and clot formation.
Conclusions:
- Inherited thrombophilia is a significant risk factor for developing catheter-related thromboembolism in pediatric populations.
- Genetic screening for thrombophilia may be crucial in managing children requiring vascular catheters to prevent serious thrombotic events.
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).
Study Design:
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.