Thrombophilia screening in clinical pathology: Guidelines and controversies

Maryam Ahmed Almuhaysh; Jawaher Sadun Alsadun; Munirah Mohammed Almulhim; Maryam Mousa Ahmed Almousa; Ali Moharag Hadadi; Ola Abdullah Aljaafari; Ali Hassan Alhussain; Waseem Ali Alquwayi; Yasser Abdrab Alameer Alkuwaiti; Ahmed Mohammed Almehainy

doi:10.53730/ijhs.v6nS10.15194

Authors

Maryam Ahmed Almuhaysh King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Jawaher Sadun Alsadun King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Munirah Mohammed Almulhim King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Maryam Mousa Ahmed Almousa King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Ali Moharag Hadadi King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Ola Abdullah Aljaafari King Abdulaziz Hospital, Alahsa ‏Ministry of National Guard Health Affairs
Ali Hassan Alhussain King Abdulaziz Hospital, Alahsa Ministry of National Guard Health Affairs
Waseem Ali Alquwayi King Abdulaziz Hospital, Alahsa Ministry of National Guard Health Affairs
Yasser Abdrab Alameer Alkuwaiti King Abdulaziz Hospital, Alahsa Ministry of National Guard Health Affairs
Ahmed Mohammed Almehainy King Abdulaziz Hospital, Alahsa Ministry of National Guard Health Affairs

Keywords:

thrombophilia, venous thromboembolism, laboratory factors, genetic mutations, diagnostic accuracy

Abstract

Background: Thrombophilia screening is crucial in assessing the risk of venous thromboembolism (VTE), particularly in patients with a history of VTE. Clinical guidelines recommend targeted testing based on management implications and clinical context, including factors like surgery, malignancy, and hormonal status. Aim: This review evaluates the significant laboratory factors affecting the interpretation of thrombophilia test outcomes, specifically focusing on inherited and acquired thrombophilias associated with VTE. Methods: The review discusses common thrombophilias, including factor V Leiden, prothrombin mutations, deficiencies in protein C, protein S, and antithrombin, as well as antiphospholipid antibodies. It emphasizes pre-analytical variables influencing diagnostic accuracy and describes recommended laboratory protocols for specimen collection, processing, and testing. Results: Key findings indicate that genetic mutations and deficiencies significantly elevate VTE risk in various populations. The accuracy of functional assays is influenced by factors such as specimen handling, anticoagulant therapy, and the presence of interfering substances. Conclusion: Proper interpretation of thrombophilia testing is essential for effective patient management. Understanding the impact of laboratory variables is crucial for minimizing diagnostic errors and ensuring accurate assessment of thrombotic risks.

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