Haematologica 2000; 85:E11

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Spontaneous superficial vein thrombosis in a young patient double heterozygous for factor V Leiden and the prothrombin G20210A mutation: a case report
Amparo Vayá, Inmaculada Llopis,* Rogelio Trenor,Yolanda Mira,**Amparo Estellés, Justo Aznar
Thrombosis and Hemostasis Unit, Department of Clinical Pathology;**Research Center, La Fe University Hospital; *Hematology Service, Peset Aleixandre Hospital. Valencia, Spain.

Correspondence: Amparo Vayá, MD, Phd, Thrombosis and Hemostasis Unit, Department of Clinical Pathology, La Fe University Hospital, Avd. Campanar 21, 46009 Valencia, Spain. Phone: international +34-96-3862714 &endash;Fax:international +34-96-3868789 &endash;E-mail: vaya_amp@gva.es
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A 44-year-old male presented an episode of SVT in the left internal saphenous vein, without concomitant circumstantial thrombotic risk factors. Doppler ultrasound did not show any abnormalities in the deep venous system. The family had no history of venous thromboembolic disease. The patient was in good health and had no cardiovascular risk factors (non obese, non smoking, non hypertensive or dyslipemic). A thrombophilia study was carried out, incluiding the search for deficiencies of the coagulation inhibitors, AT, PC, PS, plasminogen, heparin cofactor II, lupus anticoagulant, anticardolipin antibodies, factor V Leiden and the G20210A prothrombin mutation. The patient was found to be heterozygous for both factor V Leiden and the G20210A prothrombin mutation without other anomalies. A family study was performed. Figure 1 indicates the genotypes, age and the presence of SVP. II-1, the propositus, his son III-2, his brother II-2 and this nephew III-4 were heterozygous for both factor V Leiden and the G20210A prothrombin mutation. Another nephew was only heterozygous for factor V Leiden. His father, I-1 had no defect and his mother had died at 45. Interestingly, his brother, II-2, suffered a spontaneous episode of SVT in the left lower limb two months after the thrombophilia study was run. Our case is similar to that reported by Wulf6 of an 18-year-old male who presented a spontaneous SVT episode and was found to be homozygous for the factor V Leiden and prothrombin gene mutation, although in this case the patient's family had a history of deep venous thrombosis. Contradictory results have been published on the prevalence of inherited thrombophilic defects in SVT. Martinelli4 found SVT to be very common (43%) in carriers of factor V Leiden. Mc Coll2 found thrombophilia to play a minor role in the etiology of SVT associated with pregnancy; 4.2% of the pregnant women studied showed the factor V Leiden mutation, a figure comparable to the prevalence of this abnormalitie in the healthy population in UK, but this author did not search for the prothrombin G20210A mutation. Moerloose3 found that in SVT patients the prevalence of FV Leiden was higher than in controls, as was the prevalence of FII G20210A, although for the latter mutation the difference was not statistically significant. After adjusting for overweight in a multivariate analysis, the association with FV Leiden, although strong, was no longer significant, which means that this finding should be confirmed in large studies. On the other hand, Martinelli5 found that the prevalence of thrombophilic states was higher in SVT patients than in controls. The odds ratios for SVT were 4.3 and 3.6 for factor V Leiden and the G20210A prothrombin mutation respectively, when the study was restricted to 43 patients who had SVT as their only thrombotic manifestation. The different results obtained in these two studies could be due to the low prevalence of the G20210A mutation in the Moerloose study, because of the geographical area where it was performed.7 In our area, East Spain, it has been shown than the G20210A prothrombin mutation is the most prevalent thrombophilic defect.8 The present case emphasizes according to Martinelli,5 that it is advisable to perform a thrombophilia work-up on young patients with SVT without concomitant circumstantial thrombotic risk factors (varicose veins, malignancy, autoimmune diseases ...), because it can constitute the first manifestation of a hypercoagulable state, allowing us to identify patients at a high risk for DVT, and thereby permiting the correct choice of antithrombotic prophylaxis in situations involving high thrombotic risk.

References

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