Last update:
30-Oct-2001

Arch Hellen Med, 2000, 17(Supplement):102-109

ORIGINAL PAPER

Results of diagnostic studies for thrombophilia
in a group of patients with a medical history
of arterial or venous thrombosis

Α. GAFOU, G. THEODOSIADIS, E. DIGENOPOULOU, N. VGOΝTZA, S. SKLAVOU,
V. TSEVRENIS, M. BELLIA, E. NOMIKOU, E. KONTOPOULOU-GRIVA
1st Regional Transfusion and Haemophilia Centre, Hippokration Hospital, Athens, Greece

OBJECTIVE The aim of the current study was to study the results of the diagnostic tests for thrombophilia in patients with a medical history of arterial or venous thrombosis.
METHOD We retrospectively reviewed the outcomes of laboratory evaluation of 161 patients (median age 44 years) with thrombosis, in the period 1/1/98–31/7/99. Εighty seven of these patients had arterial (54%) and 74 had venous thrombosis (46%). The commonest cause of arterial thrombosis was stroke (80.4%) and of venous thrombosis was deep venous thrombosis (68.9%). The performed tests were PT, a-PTT, Fib, D-Di, FS, Prot C, S, ATIII, Plg, FXII, LLA, ACA, APC-resistance and genotypic analysis for FV-Leiden and FII 20210A. Also, in 30 patients with arterial thrombosis genotypic analysis for MTHFR C677T gene was done.
RESULTS A predisposing factor was present (positive diagnosis, group A) in 59 patients (36.6%). The test results of 45 patients (28%) could not be definitely interpreted (equivocal results, group B) and the results of 57 patients (35.4%) were normal (group C). The median age of the patients in group A was 44 years and it did not differ statistically from the median age of the patients in other groups. In group A, 79.9% of the patients had one defect. The most common defects were FV-Leiden (37.3%) and FII 20210A (23.8%). Twenty two percent of the patients of group A had two defects and the most common defect was FV-Leiden+ FII 20210A (11.9%). In group B, 73.3% of the patients had one defect and the most common cause was ACA (44.4%), while 26.7% of the patients had two defects and the most common cause was ACA+LLA (24.4%). Patients with arterial events were less likely to have a definable laboratory defect (25 or 28.7%) the main cause being FII 20210A (28%), than those with venous events (34 or 45.9%, P<0.05) main cause being FV-Leiden (47%). In 21.5% of patients on anticoagulants (39/161) a positive diagnosis was made while the results were inconclusive in 22.3% (P>0.005).
CONCLUSIONS The molecular study of FV-Leiden and FII 20210GA essentially contributes to a definite diagnosis of thrombophilia. Patients with venous events are more likely to have a definable defect. Extended laboratory evaluation of patients over the age of 50 and those on anticoagulants is worthwhile.

Key words: Arterial thrombosis, Thrombophilia, Venous thrombosis.