Elsevier

The Journal of Pediatrics

Volume 133, Issue 6, December 1998, Pages 777-781
The Journal of Pediatrics

Prevalence of the factor V Leiden mutation in children and neonates with thromboembolic disease,☆☆,,★★

https://doi.org/10.1016/S0022-3476(98)70150-7Get rights and content

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. (J Pediatr 1998;133:777-81)

Section snippets

Subjects

Between November 1994 and February 1997, 68 children (2 months to 20 years of age) and 35 neonates (<1 month of age) underwent screening for the FVL mutation at our institution as part of an evaluation for a hypercoagulable state. A control group consisted of 65 healthy adult pheresis platelet donors at the Children’s Hospital of Philadelphia.

Chart Review

Clinical data were abstracted from inpatient records at the Children’s Hospital of Philadelphia and outpatient clinic records from the divisions of

Results

Clinical data were abstracted from records on 92 of the 103 patients, 34 neonates (<1 month of age) and 58 children (2 months to 20 years of age); 78 of those 92 (33 neonates and 52 children) had history, physical findings, and results of imaging studies consistent with thromboembolic disease (Table I).

. Chart review

Empty CellNeonatesChildrenTotal
Factor V Leiden ordered3568103
Clinical records available345892
Cases with inpatient chart available314374
Cases with outpatient chart available114859
Cases with both

Discussion

The role of inherited prothrombotic conditions in adults is well established. Thrombotic disease is relatively rare in children,1 and increasing age is a significant risk factor.2 In adults FVL is a weaker risk factor than deficiencies in antithrombin III, protein C, and protein S.6 Therefore we speculated that the FVL mutation would play a minor role in neonatal and pediatric thromboembolic disease and, when present, would require the presence of other major risk factors to cause clinical

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    From the Division of Hematology, Department of Pediatrics, and Division of Neurology, Department of Medicine, University of Pennsylvania, Philadelphia; and The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.

    ☆☆

    Supported by National Institutes of Health grant F32 HL09397 to J.N.H.

    Reprint requests: J. Nathan Hagstrom, MD, Division of Hematology/Oncology, Connecticut Children’s Medical Center, Department of Pediatrics, University of Connecticut School of Medicine, 282 Washington St, Hartford, CT 06106.

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