Clinical features in 36 patients homozygous for the ARG 506-->GLN factor V mutation.
We analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gln factor V mutation and found a circumstantial event at risk for thrombosis in 29 of the 31 patients with thrombosis. The most frequent predisposing factors were the post-partum period and the use of oral contraceptives in women, and surgery in both sexes. Venous thrombosis recurred in 48% of the patients. One patient had a myocardial infarction at age 33 years, and also had an antiphospholipid syndrome. Homozygous Gln 506 mutation leads to far less severe thrombotic complications than homozygous protein C and protein S deficiencies and does not seem to predispose patients to arterial thrombosis.
Emmerich
J
J
Laboratoire d'Hémostase, Höpital Broussais, Paris, France.
Alhenc-Gelas
M
M
Aillaud
M F
MF
Juhan-Vague
I
I
Jude
B
B
Garcin
J M
JM
Dreyfus
M
M
de Moerloose
P
P
Le Querrec
A
A
Priollet
P
P
Berruyer
M
M
Vallantin
X
X
Wolf
M
M
Aiach
M
M
Fiessinger
J N
JN
D000328:Adult; D000368:Aged; D001120:Arginine / Q000737:chemistry*; D016022:Case-Control Studies; D005121:Extremities / Q000098:blood supply; D005165:Factor V / Q000235:genetics*; D005260:Female; D005973:Glutamine / Q000737:chemistry*; D006720:Homozygote; D006801:Humans; D007511:Ischemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics; D017354:Point Mutation; D012307:Risk Factors; D012727:Sex Characteristics; D013927:Thrombosis / Q000235:genetics*
D005973:Glutamine; D005165:Factor V; D001120:Arginine