Frequency of factor V Leiden mutation in Egyptian cases with myocardial infarction

Background: Acute myocardial infarction (MI) is death or necrosis of myocardial cells due to lack of blood supply. One of the causes may be thrombosis resulting from inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation. Objectives: To check for the presence of FVL mutation among Egyptian cases with MI compared to normal population controls. Subjects and methods: This study is a form of a prospective controlled study including 44 MI cases with an age ranging from 25 to 80 years and sex of 36 males (81.8%) and 8 females (18.2%). These cases were taken randomly from those admitted in the Intensive Care Units of Mansoura University Hospitals, Egypt. Of these cases, 10 cases (55.6%) were smokers, 7 cases (75.0%) had a positive family history of MI, 8 cases (18.18%) were diabetic and 20 cases (45.45%) were hyperlipidemic. For association and risk analysis, cases were compared to 211 healthy unrelated control subjects of matched age and sex. Factor V Leiden (G1691A) gene mutation was detected using a multiplex allele-specific PCR amplification. Results: Mutant A allele frequency of factor V Leiden was significantly higher in cases (30.68%) than in controls (10.19%) (p<0.0001, OR=3.9). Total cases showed significant higher frequency heterozygous mutant genotype GA (43.0%) compared to controls (16.6%), (p<0.0001, OR=4.45). Also total cases showed significant higher frequency of the homozygous mutant genotype AA (9.0%) compared to controls (1.9%), (p=0.0094, OR=8.19). On the other hand, no significant difference was found between cases subgroups related to age, sex, smoking, diabetes and hyperlipedemia. Conclusion: Frequency of factor V Leiden mutation among Egyptian cases with myocardial infarction is relatively high. So, families of affected subjects should be genotyped and counseled for proper prophylaxis.