Factor V Leiden, Prothrombin 20210 G → A and the MTHFR C677T Mutations in Childhood Stroke

M. D. McColl; E. A. Chalmers; A. Thomas; A. Sproul; C. Healey; I. Rafferty; R. McWilliam; P. Eunson

doi:10.1055/s-0037-1614555

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1999; 81(05): 690-694
DOI: 10.1055/s-0037-1614555

Rapid Communication

Schattauer GmbH

Factor V Leiden, Prothrombin 20210 G → A and the MTHFR C677T Mutations in Childhood Stroke

Autor*innen

M. D. McColl

¹From the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK
E. A. Chalmers

¹From the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK
A. Thomas

²Edinburgh Sick Childrens NHS Trust, Scotland, UK
A. Sproul

¹From the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK
C. Healey

²Edinburgh Sick Childrens NHS Trust, Scotland, UK
I. Rafferty

¹From the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK
R. McWilliam

¹From the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK
P. Eunson

²Edinburgh Sick Childrens NHS Trust, Scotland, UK

Abstract

Summary

Ischaemic stroke is a rare occurrence in children and in a proportion of cases the aetiology remains unknown. We have investigated the role of thrombophilia in the aetiology of this condition. Of 50 cases identified at two centres, 37 were available for detailed haematological analysis. No cases were identified with deficiencies of antithrombin, protein C or protein S. One case had elevated IgG anticardiolipin antibodies at low titre. The prevalence of the prothrombin 20210 G→A mutation, factor V Leiden (FVL) mutation and the C677T mutation in the MTHFR gene was compared in cases to that observed in random unselected cord blood controls. The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5). Our findings suggest that thrombophilia may not play a significant role in the aetiology of stroke in children, although a large prospective study is required to investigate this area further.

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