Elsevier

Thrombosis Research

Volume 124, Issue 2, June 2009, Pages 174-177
Thrombosis Research

Regular Article
Thrombophilia testing in patients with venous thromboembolism. Findings from the RIETE registry

https://doi.org/10.1016/j.thromres.2008.11.003Get rights and content

Abstract

Background

There is scarce information on the management habits with regard to thrombophilia testing in patients with venous thromboembolism (VTE).

Patients and Methods

RIETE is an ongoing registry of consecutive patients with symptomatic VTE. Aimed to estimate the extent to which thrombophilia test ordering patterns are consistent with the recommendations by a 2005 international consensus statement, we retrospectively compared the clinical characteristics of all patients tested for thrombophilia and those who were not tested.

Results

Of 21367 patients enrolled, 4494 (21%) were tested for thrombophilia: 1456 (32%) tested positive, 3038 (68%) negative. The most common abnormalities were: Factor V Leiden (N = 376), antiphospholipid syndrome (N = 289), and prothrombin G20210A (N = 263). Overall, 12740 (60%) patients met one or more criteria of the consensus statement: 7894 (37%) had a first episode of idiopathic VTE; 4013 (19%) were aged < 50 years; 133 (0.6%) were pregnant women; 758 (3.5%) were using estrogens; 3375 (16%) had recurrent VTE. Of them, 3618 (28%) underwent thrombophilia tests, 34% of whom tested positive. The percentage of patients testing positive was significantly higher in those aged < 50 years, with no differences between idiopathic or secondary, first episode or recurrent VTE. Finally, 876 (10%) of the 8627 (40%) patients meeting no criteria were tested. Of these, 208 (24%) tested positive.

Conclusions

Twenty-eight percent of patients meeting one or more criteria for thrombophilia testing, and 10% of those with no criteria were actually tested. Thus, a substantial proportion of thrombophilia ordering is not consistent with the recommendations made by the consensus statement.

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.

Section snippets

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).

References (19)

  • M. Monreal et al.

    Venous Thromboembolism in Patients with Renal Insufficiency. Findings from the RIETE Registry

    Am J Med

    (2006)
  • M. Monreal et al.

    Fatal pulmonary embolism and fatal bleeding in cancer patients with venous thromboembolism: Findings from the RIETE registry

    J Thromb Haemost

    (2006)
  • M. Greaves et al.

    Laboratory testing for heritable thrombophilia: Impact on clinical management of thrombotic disease

    Br J Haematol

    (2000)
  • I. Walker et al.

    Investigation and management of heritable thrombophilia

    Br J Haematol

    (2001)
  • M. Cushman

    Inherited risk factors for venous thrombosis

    Hematology Am Soc Hematol Educ Program

    (2005)
  • P. Pottier et al.

    Efficiency of systematic thrombophilia screening in idiopathic venous thrombosis: A prospective study in Internal Medicine

    Clin Appl Thromb Hemost

    (2005)
  • O. Wu et al.

    Screening for thrombophilia in high-risk situations: A meta-analysis and cost-effectiveness analysis

    Br J Haematol

    (2005)
  • L. Merriman et al.

    Testing for thrombophilia: an evidence-based approach

    Postgrad Med J

    (2006)
  • O. Wu et al.

    Screening for thrombophilia in high-risk situations: Systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study

    Health Technol Assess

    (2006)
There are more references available in the full text version of this article.

Cited by (70)

  • Severe compression of left iliac vein is a protective factor for the risk of inferior vena cava thrombosis

    2022, Journal of Vascular Surgery: Venous and Lymphatic Disorders
    Citation Excerpt :

    Inheritable thrombophilia are among the main risk factors for IVCT.20 The age of onset for patients with IVCT with inheritable thrombophilia is relatively very young.21-23 However, the detection of inheritable thrombophilias was not performed in this study.

  • High detection rates of antithrombin deficiency and antiphospholipid syndrome in outpatients aged over 50 years using the standardized protocol for thrombophilia screening

    2019, Thrombosis Research
    Citation Excerpt :

    As expected, the most frequent abnormality in our cohort (13.3% of all patients) regardless of the indication for testing was FVL, which agrees with previous reports in white patients [11,12]. The second most common detected thrombophilia in our study was APS diagnosed in 10.5% of screened patients, similarly to the study by Roldan et al. [12]. The incidence of APS in every screening indication was substantial, ranging from 5.1% in the group of first unprovoked PE to 17.9% in women with VTE during pregnancy/childbirth.

View all citing articles on Scopus
View full text