[Coincidence of 20210A prothrombin variant and factor V Leiden predisposing to venous thromboembolism].
Coexistence of inherited and environmental risks leads to the high hazard of venous thromboembolism. In such cases, there might be difficulties in the diagnosis and treatment of recurrent episodes. The importance of Factor V Leiden and prothrombin variant 20210A in the pathogenesis of venous thromboembolic disease, is widely accepted, but the carriership of thrombophilic genes' variants is usually not sufficient for the development of the disease. We report two cases of familial thrombophilia with concurrent presence of prothrombin variant 20210A and factor V Leiden. In a 28-year-old woman: pregnancy, immobilization, obstetric intervention appeared to precipitate the thromboembolic complication. In the second patient, the genetic studies revealed both thrombophilic mutations which could predispose to the recurrent venous thromboembolism, previously thought to be idiopathic. We discuss diagnostic and therapeutic difficulties in such patients.
Adamek
L
L
II Katedra Chorób Wewnetrznych Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków.
Jankowski
M
M
Sanak
M
M
Krzanowski
M
M
Grzanka
P
P
Nizankowska
E
E
Szczeklik
A
A
D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011248:Pregnancy Complications; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
D005165:Factor V; D011516:Prothrombin