Do we need more guidance on thrombophilia testing? Challenges and special considerations

ABSTRACT

Introduction

Thrombophilia testing (TT) is a laboratory procedure designed to detect the risk factors involved in the pathogenesis of vascular occlusions. The role of TT is also controversial because it has a limited impact on the choice and duration of antithrombotic treatments.

Areas covered

We reviewed, by examining MEDLINE up to October 2023. Accepted and not accepted thrombophilia markers are discussed along with the appropriateness or not of prescribing TT in several conditions such as: provoked and unprovoked venous thromboembolism (VTE), women who are planning a pregnancy whose relatives had VTE or have a hereditary thrombophilia, before assumption of estro-progestins, after multiple pregnant loss, arterial thrombosis, retinal vein occlusion, and splanchnic vein thrombosis.

Expert opinion

TT is not essential in the management of VTE, but it may be useful for limiting adverse events in case of thrombophilia. We expose our criticism of items afforded by other guidelines by presenting our opinion based on both the scientific evidence and clinical practice. We also deal with common mistakes in prescribing and interpretations of TT hoping to purpose an educational approach on this topic. Finally, we emphasize the creation of the expert in hemostasis and thrombosis who should be present in every hospital.

KEYWORDS:

• Thrombophilia testing
• factor V Leiden
• prothrombin G20210A
• anti-phospholipid antibodies
• contraception
• fetal loss
• splanchnic vein thrombosis

Article highlights

• Thrombophilia Testing (TT) is not essential for the management of venous and arterial thrombosis.

• It should not interfere with the therapeutic decisions.

• It may be useful before contraception and multiple fetal loss.

• It is not helpful in the arterial thrombosis exept anti-phoshpolipids and homocysteine in selected cases).

• It should not be offered in retinal vein occlusion.

• Attention should be paid in ordering anti-phospholipid antibodies.

• Mutation JAK2^V617F should be included in TT dedicated to splanchnic vein thrombosis.

• Very high Homocysteine levels are rare but should be searched in selected cases.

• Research in this field is promising providing that results will be solid and easy to implement in the daily practise.

Declaration of interest

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 material discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or mending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.