Prevalence of the factor V leiden mutation in children and neonates with thromboembolic disease.
Publication/Presentation Date
12-1-1998
Abstract
OBJECTIVE: Resistance to activated protein C (APC) has been identified as a risk factor for thrombotic disease in adults. In over 90% of cases, the basis for the APC resistance is a mutation in the coagulation factor V gene (factor V Leiden) that renders the protein more resistant to inactivation by APC. We sought to determine the prevalence of the factor V Leiden (FVL) mutation in neonates and children who had experienced an arterial or venous thromboembolic event.
STUDY DESIGN: We retrospectively analyzed the clinical records of 33 neonates and 52 children with thromboembolic disease. Screening for the FVL mutation was performed by DNA analysis, allowing for identification of patients as normal, heterozygous, or homozygous.
RESULTS: Of the 85 patients studied, 12 (14.1%) were heterozygous for FVL; none were homozygous. Of the 47 patients who had arterial central nervous system events, 8 (17%) were positive for the FVL mutation, including 6 of 22 (27%) neonates. Of those patients who had a venous thrombosis, 4 of 32 (12.5%) were FVL positive. None of the 85 patients had protein C deficiency, 3.5% had protein S deficiency, 1.2% had antithrombin III deficiency, and 16.5% had anti-phospholipid antibodies.
CONCLUSION: These data suggest that the FVL mutation plays a role in the development of arterial and venous thrombotic events in neonates and children.
Volume
133
Issue
6
First Page
777
Last Page
781
ISSN
0022-3476
Published In/Presented At
Hagstrom, J. N., Walter, J., Bluebond-Langner, R., Amatniek, J. C., Manno, C. S., & High, K. A. (1998). Prevalence of the factor V leiden mutation in children and neonates with thromboembolic disease. The Journal of pediatrics, 133(6), 777–781. https://doi.org/10.1016/s0022-3476(98)70150-7
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9842043
Department(s)
Department of Pediatrics
Document Type
Article