[Multigenic thrombophilia: genetic anomaly of factor II and mutation of factor V Leiden. Study in a French family].
BACKGROUND
A genetic variation of the prothrombin (factor II) gene, a G to A transition at nucleotide position 20210, was recently found in patients with familial thrombophilia (predisposition to venous thrombosis). It seems to be frequent in patients with the factor V Leiden mutation. We report a family with the factor V Leiden and/or the genetic variation of prothrombin in 3 members.


METHODS
The patient had repeated episodes of deep vein thromboses starting at the age of 30 during the 4th pregnancy. She is a heterozygous carrier of both the factor V Leiden nutation and the prothrombin mutation 20210 A. She has 4 asymptomatic children, aged 28 to 32 and 3 of them have been explored: one son has the prothrombin mutation, one daughter the factor V Leiden and one has none of them.


CONCLUSIONS
This case report illustrates the polygenic nature of thrombophilia which may explain the heterogeneity of clinical expression observed in isolated congenital abnormalities, especially in factor V Leiden mutation.
Conard
J
J
Service d'Hématologie biologique, Hôtel-Dieu, Paris.
Mabileau-Brouzes
C
C
Horellou
M H
MH
Elalamy
I
I
Samama
M M
MM
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005165:Factor V / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics*; D012008:Recurrence; D012307:Risk Factors; D013924:Thrombophlebitis / Q000235:genetics*
D005165:Factor V; D011516:Prothrombin
Thrombophilie multigénique: anomalie génétique du facteur II et mutation du facteur V Leiden. Etude dans une famille française.