The factor V Leiden mutation: Spectrum of thrombotic events and laboratory evaluation

Abstract

The factor V mutation is a common cause of venous thromboses but may also be associated with the early presentation of arterial thrombotic events. The APC resistance test is a sensitive screening assay but has limitations of its specificity in clinical practice.

Aetiology of Venous Thrombosis

“…Since then, the terms APC-R and FVL were linked together and used interchangeably. Several studies quickly followed that discovery and proved a positive association between FVL and VTE, showing that heterozygous carriers of the mutation are at higher risk of developing VTE by 10-fold while homozygous carriers have a much higher risk ratio reaching 140-fold (Dahlbäck et al, 1993;Zöller et al, 1994;Bertina et al, 1994;Hoagland et al, 1996;Dahlbäck, 1997;Faioni et al, 1997;Alderborn et al, 1997;Bontempo et al, 1997). Moreover, most homozygous cases were found to get at least one VTE event in their life time, and at an earlier time of their life (Samama et al, 1996;Florell & Rodgers, 1997).…”

Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs

“…[1][2][3][4][5][6] It is present in a high number of Caucasians, 1,4,6,7,[10][11][12][13][14][15][16][17][18][19][20] but it is very rare in other ethnic groups. 7,17,[20][21][22][23][24][25] Few studies on Arabs showed that the prevalence of FVL was 0-27% in different Arabic countries, [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] being as low as zero in countries like Saudi Arabia, 7,29,40 Oman 34 and Yemen, 27 whereas being relatively very high (27%) in Palestinians (Israeli Arabs).…”

“…3,4,7,8 Studies have shown that people with FVL had a higher risk of developing VTE (10-fold and 140-fold increased risk in heterozygous and homozygous carriers, respectively). 1,2,5,6,[9][10][11][12] Several studies were conducted worldwide to determine the prevalence and risk of FVL in different countries and ethnic groups. FVL was reported to be highly present in populations of Caucasian origin living in Europe, United States and Australia, with a prevalence of 15-65% among VTE patients and 1-15% in the normal populations studied.…”

“…FVL was reported to be highly present in populations of Caucasian origin living in Europe, United States and Australia, with a prevalence of 15-65% among VTE patients and 1-15% in the normal populations studied. 1,4,6,7,[10][11][12][13][14][15][16][17][18][19][20] On the other hand, FVL was almost absent in other populations such as Africans, South-East Asians, Chinese, Japanese, American Indians, Greenland Eskimos and Aboriginals of Australia. 7,17,[20][21][22][23][24][25] In Kuwait, VTE is quite common.…”

Can screening for genetic markers improve peripheral artery bypass patency?

“…Currently, the most common genetic cause of a prothrombotic phenotype is the factor V Leiden mutation in which one nucleotide change at position 1691 of the gene results in the substitution of adenine for guanine in the structure of factor V. 5,6 This mutation results in a delay in the inactivation of activated factor V. 5 It is present in approximately 5% of the US population and increases the risk of venous thrombosis three-fold to eight-fold for heterozygous carriers 7-10 and 80-fold for homozygous carriers. 8 The factor V Leiden mutation also has been linked to a variety of arterial events.…”