The real value of thrombophilia markers in identifying patients at high risk of venous thromboembolism

Abstract

Thrombophilia is defined as a condition predisposing to the development of venous thromboembolic complications. Over the past decades, there have been great advances in the understanding of the pathogenesis of venous thromboembolism (VTE) through the identification of several inherited and acquired risk factors. However, in spite of such progress, a number of questions remain unanswered. In particular, it is well known that some subjects carrying several risk factors for VTE will never experience a thrombotic episode while other individuals developed recurrent thromboembolic events with no known risk factor. In this review, we summarize the current knowledge on the various thrombophilia markers, and also discuss their role in the development of thrombotic complications.

Keywords::

• acquired
• arterial thrombosis
• inherited
• thrombophilia
• venous thrombosis

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Thrombophilia is defined a hypercoagulable state leading to a thrombotic tendency.

• Thrombophilic abnormalities can be inherited, acquired or mixed (both congenital and acquired).

• Thrombophilic abnormalities cause blood hypercoagulability through the impairment of the anticoagulant or the potentiation of procoagulant pathways.

• During the past 30–40 years, our knowledge on genetic abnormalities causing thrombophilia has greatly expanded.

• Both inherited and acquired risk factors should be taken into account when assessing the individual risk of thrombosis.

• Universal screening for inherited thrombophilia is unjustified.

• Screening asymptomatic relatives of carriers of severe thrombophilia is recommended.