Elevated Lp(a) and thrombophilic mutations : the experience of a general hospital

Abstract

Abstract Funding Acknowledgements None. Background Thrombophilia and elevated Lp(a) levels have been studied as risk factors predisposing to cardiovascular events. There is no evidence suggesting that the common mutations causing thrombophilia or elevated Lp(a) alone could be regarded as independent risk factors for acute coronary syndromes. Purpose To compare the frequency of the simultaneous presence of thrombophilic mutations along with elevated Lp(a) levels in young patients presenting with acute coronary syndrome (ACS) compared with those without ACS. Methods We retrospectively analyzed the data from all the young patients (males<40yo, females <45yo) who were referred for thrombophilia testing to our hospital for a period of 10 years and divided them in two groups : those who presented with ACS (ACS group) and those who were referred for thrombophilia testing for other reason (non ACS group). Lp(a) level >30mg/dl was considered as elevated. We compared the frequency of elevated Lp(a) levels in patients carrying the same mutation in the two groups. P<0.01 was considered statistically significant. Results Of the 127 patients recorded in the ACS group, 25 were factor V Leiden homozygotes, 11 factor V Leiden heterozygotes, 17 PAI 4G/5G homozygotes, 8 PAI 4G/5G heterozygotes, 36 G20210A homozygotes and 12 G20210A heterozygotes. In the non ACS group, we analyzed data from 312 patients.Of them, 12 were factor V Leiden homozygotes, 29 factor V Leiden heterozygotes, 31 PAI 4G/4G homozygotes, 17 PAI 4G/5G heterozygotes, 66 G20210A homozygotes and 57 G20210A heterozygotes. Elevated Lp(a) levels were found as follows : (ACS vs non-ACS group) factor V Leiden homozygotes 14/25(56%) vs 1/12(8.33%) (p<0.01), factor V Leiden heterozygotes 7/11(8.66%) vs 2/29(6.89%), p<0.01), PAI 4G/4G homozygotes 1/17(5.88%) vs 0/31, PAI 4G/5G heterozygotes 0/8 vs 0/31), G20210A homozygotes 0/36 vs 1/66(1.51%), G20210A heterozygotes 1/12(9.44%) vs 0/57). Conclusions Lp(a) was elevated more frequently in patients carrying factor V Leiden mutation (either homozygotes or heterozygotes) who presented with ACS when compared with patients without ACS. Although it is not established, further studies are needed in order to identify any possible correlation of the combination of this mutation along with elevated Lp(a) levels with the occurrence of ACS in young patients.