Epidemiology of activated protein C resistance and factor v leiden mutation in the mediterranean region

Abstract

Venous thromboembolic disorders (VTE) are serious disorders with high morbidity and mortality rates. Many genetic and acquired risk factors were identified to cause VTE. The most common genetic risk factor is Factor V Leiden mutation (FVL). FVL was found in high percentage of populations of Caucasian origin but was almost absent in non-Caucasians. It was also reported in populations living in North Africa and the Middle East. This review article briefly explains FVL and how it causes VTE, the distribution of FVL worldwide, and then it elaborates on the epidemiology of FVL in the Mediterranean Region and how this brought speculations that FVL might have originated in the Eastern Mediterranean area.

Figure 1.

The processes of coagulation and fibrinolysis as a series of chemical reactions leading to the formation of a clot to stop bleeding from the site of injury, and then removing the clot afterwards. Solid lines indicate activation process, while dashed lines indicate inactivation process. Abbreviations: antithrombin (AT), protein C (PC), activated protein C (APC), protein S (PS), phospholipids (PL), lupus anticoagulants (LA), tissue plasminogen activator (tPA), tPA inhibitor (tPAI), α2 antiplasmin (α2AP), thrombin activatable fibrinolysis inhibitor (TAFI).

Figure 2.

FV molecule showing arginine 506 as a main point of action for APC which is negatively affected by FVL.

Figure 3.

Map of the Mediterranean Sea and its countries showing the prevalence of FVL in healthy populations living there.