Prevalence of the factor V Leiden mutation in children and neonates with thromboembolic disease☆,☆☆,★,★★
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).Empty Cell Neonates Children Total Factor V Leiden ordered 35 68 103 Clinical records available 34 58 92 Cases with inpatient chart available 31 43 74 Cases with outpatient chart available 11 48 59 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
References (29)
- et al.
Venous thromboembolic complications in children
J Pediatr
(1993) - et al.
Venous thromboembolic complications (VTE) in children: first analyses of the Canadian registry of VTE
Blood
(1994) Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism
Blood
(1995)- et al.
Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study
Lancet
(1993) - et al.
High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance)
Blood
(1995) - et al.
Activated protein C resistance in cases of cerebral infarction [letter]
Lancet
(1995) - et al.
Myocardial infarction, Arg 506 to Gln factor V mutation, and activated protein C resistance [letter]
Lancet
(1995) - et al.
Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women
Blood
(1997) - et al.
Thrombosis in otherwise well children with the factor V Leiden mutation
J Pediatr
(1996) - et al.
Detection of the factor V Leiden mutation in a nonselected black population [letter]
Blood
(1996)
Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome
Pediatr Neurol
Childhood stroke associated with familial protein S deficiency
Brain Dev
Activated protein C resistance in childhood stroke [letter]
Lancet
Deep-vein thrombosis
N Engl J Med
Cited by (135)
Mechanical Thrombectomy via Common Carotid Artery Access in a Neonate with Aortoiliac Occlusion Syndrome
2022, Journal of Vascular and Interventional RadiologyOff-Pump Bidirectional Glenn Shunt in a Patient With Abdominal Aortic Thrombosis: Anesthesia and Perioperative Echocardiographic Perspective
2021, Journal of Cardiothoracic and Vascular AnesthesiaCitation Excerpt :The patient was discharged 1 week after the surgery. Aortic thrombosis is attributable to a variety of factors including inherited thrombophilia,4 protein C deficiency,5 homocystinuria,6 and umbilical arterial cannulation in the neonatal period.7 The patient did not undergo any umbilical arterial cannulation, and tests for prothrombotic disorders, lupus anticoagulant, anticardiolipin antibody, antithrombin III levels, protein C, and protein S levels were within normal limits.
Spontaneous neonatal renal vein thromboses: Should we treat them all? A report of five cases and a literature review
2018, Pediatrics and NeonatologyCitation Excerpt :In the latter situation, RVT results from the interactions between genetic and environmental factors.6 The management of RVT is uncodified and remains controversial, leaving place for various management strategies that range from simple supportive measures to thrombolysis with heparin, and low-molecular-weight heparin, urokinase, and recombinant tissue plasminogen activator (r-tPA) therapies.1,4,5,7–9 A successful treatment would be one that restores renal vascular permeability and preserves renal function in the long term, while causing minimal side effects to the patient.
Stroke in the Newborn
2018, Volpe's Neurology of the NewbornAortic mass in a newborn infant with respiratory distress
2017, Journal of Pediatric Surgery Case Reports
- ☆
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.
- ★★
0022-3476/98/$5.00 + 0 9/21/94844