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Thromb Haemost 2003; 90(04): 628-635
DOI: 10.1160/TH03-02-0096
Blood Coagulation, Fibrinolysis and Cellular Haemostasis
Schattauer GmbH

Homozygous and double heterozygous Factor V Leiden and Factor II G20210A genotypes predispose infants to thromboembolism but are not associated with an increase of foetal loss

Patrick Hundsdoerfer
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
2   Department of Paediatric Oncology / Haematology, Charité, Humboldt University, Berlin, Germany
,
Barbara Vetter
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
,
Brigitte Stöver
3   Department of Paediatric Radiology, Charité, Humboldt University, Berlin, Germany
,
Christian Bassir
3   Department of Paediatric Radiology, Charité, Humboldt University, Berlin, Germany
,
Tristess Scholz
4   Department of Neonatalogy, Charité, Humboldt University, Berlin, Germany
,
Ingrid Grimmer
4   Department of Neonatalogy, Charité, Humboldt University, Berlin, Germany
,
Eberhard Mönch
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
,
Sabine Ziemer
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
,
Rainer Rossi
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
,
Andreas E. Kulozik
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
1   Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany
› Author AffiliationsFinancial support: This study was financially supported by the Deutsche Forschungsgemeinschaft.
Further Information

Publication History

Received 14 February 2003

Accepted after revision 11 June 2003

Publication Date:
05 December 2017 (online)

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Summary

Prospective and controlled data about the individual risk profile in asymptomatic children with homozygous or double heterozygous risk genotypes for Factor V Leiden (FVL) and factor II (FII) G20210A are currently unavailable. The systematic and prospective observational study presented here was designed to determine the impact of the homozygous and double heterozygous FVL and FII G20210A genotypes on the prenatal and postnatal risk profiles of affected children. Risk infants and heterozygous controls were identified by screening of 85,304 neonates. Follow-up included the comparison of prenatal and postnatal development, ultrasonography of brain and kidneys, and a panel of independent determinants of thrombophilia. The numbers of identified or expected FVL homozygotes and double heterozygotes did not differ significantly (FVL: 116 ver-sus 91, p=0.08; FVL/FII: 94 versus 76, p=0.17), indicating the absence of a prenatal disadvantage. A prenatal advantage was suggested in FII homozygotes, whose identified number far exceeded the expected (19 versus 4, p=0.002). Clinical and/or imaging abnormalities indicated spontaneous thromboembolic events in 4 of 129 risk infants (3%) but in none of the 178 controls (p=0.02). Physical and neurological development was normal in both groups during the first 2 years of life. The risk genotypes appear to confer a significant predisposition for spontaneous thromboembolic events in infancy without impeding development within the first two years of life. Foetal risk genotypes do not cause an increased foetal loss rate. Moreover, homozygous FII G20210A appears to be associated with a prenatal advantage.

Keywords

Factor V Leiden - neonatal screening - prothrombin G20210A - thrombophilia in childhood
 

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