Prevalence of positive factor V Leiden and prothrombin mutations in samples tested for thrombophilia in Saudi Arabia

Venous thromboembolism (VTE) is a multifactorial disease that results from the interaction of both inherited and acquired risk factors. The complications of these risk factors often lead to significant morbidity and mortality. There are many inherited thrombophilia risk factors, such as factor V Leiden (FVL) and prothrombin gene mutation (PT). The prevalence of these mutations varies among geographical locations and ethnic groups.

This is a retrospective analysis of laboratory data aimed to estimate the laboratory-based frequency of FVL and PT mutations and assess the concordance between the coagulation assay and FVL molecular test.

The study reviewed the frequency of positive blood samples tested by molecular and functional-based techniques. The demographic and laboratory data of patients tested in molecular and coagulation laboratories at the Institute for Thrombophilia were reviewed and analyzed.

A total of 1524 samples were tested for FVL, 1023 for PT, and 1057 for APCR. Results showed that 90 (5.9%) patients were positive for FVL, 30 (2.93%) for PT mutations, and 95 (8.99%) had low APCR, while 38 (3.69%) patients had low APCR with no FVL mutation.

This study reports high positive results among patients tested as part of thrombophilia workup or screening for other clinical conditions associated with the increased risk of thrombosis. The limitation of this study was that it had minimal clinical correlation because the data were collected retrospectively from laboratory records.