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Can inherited thrombophilia modulate the clinical phenotype of patients with antiphospholipid syndrome?

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2013 Vol.31, N°6
PI 0926, PF 0932
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PMID: 24093662 [PubMed]

Received: 17/03/2013
Accepted : 18/06/2013
In Press: 30/09/2013
Published: 20/12/2013


The current case-control study was aimed to determine the prevalence and the clinical significance of inherited thrombophilia – factor V Leiden and G20210A prothrombin polymorphisms – in patients with antiphospholipid syndrome (APS).
100 patients with APS (77 with primary APS and 23 with systemic lupus erythematosus [SLE]-APS), and 100 patients with first lower extremity deep venous thrombosis (DVT), and 200 healthy individuals as a control groups were analysed. Patients and control group were tested for factor V Leiden and prothrombin G20210A gene polymorphism.
Factor V Leiden variant was found in 1% of APS patients, in 3% of healthy individuals (p=0.49), and 16% of patients with first DVT (p<0.0005). Prothrombin gene polymorphism was found in 6% of APS patients and in 2.5% of healthy subjects (p=0.21), and 13% of patients with DVT (p=0.14). In primary APS patients, factor V Leiden was present in 1.3% (1/77) and prothrombin gene polymorphism in 6.5% (5/77). No patient with SLE-APS had factor V Leiden and prothrombin gene variant was present in only one patient (4.3%). Patients with prothrombin polymorphism had higher prevalence of venous thrombosis, with no statistical significance (80% vs. 47.9%, p=0.35). There were no differences in the prevalence of recurrent thrombosis before or after APS diagnosis in patients with or without prothrombin gene polymorphism.
Factor V Leiden and G20210A prothrombin variant seem to play no role in either the development of APS or in the type of involved vessel, with no increased risk of re-thrombosis during follow-up.

Rheumatology Article