Regular ArticleThrombophilia testing in patients with venous thromboembolism. Findings from the RIETE registry
Introduction
Patients with venous thromboembolism (VTE) commonly have an underlying genetic predisposition. In recent years, there has been an increase in the understanding of the contribution of several thrombophilic defects to the occurrence of VTE, and the use of testing for thrombophilia has become common practice. However, the indication of such testing is much debated because of its known absence of evidence-based consequences for therapeutic strategies [1], [2], [3], [4], [5], [6], [7], [8], [9]. In 2005, the European Genetics Foundation, the Cardiovascular Disease Educational and Research Trust, the Mediterranean League on Thromboembolism and the International Union of Angiology convened a consensus conference to address diagnostic testing for thrombophilia [10]. Recommended indications for testing include: 1) a first episode of spontaneous VTE; 2) VTE patients under the age of 50 even with a transient predisposing factor; 3) those whose only risk factor is estrogen therapy or pregnancy; and 4) those with recurrent VTE irrespective of the presence of risk factors.
The RIETE (Registro Informatizado de la Enfermedad TromboEmbolica) initiative was started in 2001 to gather information on the clinical characteristics, treatment patterns and outcome of patients with VTE. It is an ongoing, multicenter, observational registry of consecutive patients with symptomatic, objectively confirmed, acute VTE [11], [12], [13]. The purpose of this study was to estimate the extent to which thrombophilia test ordering patterns are consistent with the above mentioned recommendations.
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Inclusion criteria
Consecutive patients with symptomatic, acute deep vein thrombosis (DVT) or pulmonary embolism (PE), confirmed by objective tests (contrast venography or ultrasonography for suspected DVT; pulmonary angiography, lung scintigraphy, or helical computed tomography scan for suspected PE), are enrolled in RIETE. Patients are excluded if they are currently participating in a therapeutic clinical trial or if they will not be available for a 3-month follow-up. All patients provide oral consent to their
Results
As of December 2007, 21367 patients with symptomatic, acute VTE had been enrolled in RIETE. Of these, 4494 (21%) were tested for thrombophilia: 1456 (32%) tested positive, 3038 (68%) negative. Patients tested for thrombophilia were significantly younger, more often males, and had immobility or cancer less often than those who were not tested, but had recurrent VTE, pregnancy, estrogen use, recent travel, leg varicosities or idiopathic VTE more frequently (Table 1). They presented with
Discussion
As with most screening strategies, subjecting all patients with VTE to a barrage of laboratory investigations cannot be justified, but a targeted approach of thrombophilia testing based on specific high risk patient subgroups may be of some value. Our data, obtained from a large series of consecutive patients with VTE, reveal that the ordering patterns for thrombophilia tests were not consistent with practices recommended by a recent international consensus statement [10]. According to these
Acknowledgement
We express our gratitude to Sanofi-Aventis Spain for supporting this Registry with an unrestricted educational grant and the Registry Coordinating Center, S & H Medical Science Service, for their quality control, logistic and administrative support.
The project has been partially supported by Red Respira from the Instituto Carlos III (RedRespira-ISCiii-RTIC-03/11).
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