Objective: This research aimed to study the presence of factor V gene G1691A mutation (Factor V Leiden) in SLE pediatric patients with and without complications and to investigate the association between the presence of Factor V Leiden and lupus complications mainly lupus nephiritis in these patients.
Subjects and Methods: This study was conducted on 50 Egyptian pediatric patients (48 females and 2 males) who were all diagnosed as SLE according to the American College of Rheumatology criteria. They were enrolled from the Immunological Clinics at Ain shams University Pediatric Hospital and were divided into two groups: Group 1 (control group) of matched age and sex: Including 25 newly diagnosed uncomplicated SLE patients e.g.: arthritis, musculoskeletal and cutaneous lupus. Group 2 (patients group): Including 25 SLE complicated patient e.g.: nephritis, neurolupus, thrombotic manifestation, cardities and antiphospholipid antibody syndrome. The complications observed in patient group was further classified into lupus nephritis alone or lupus nephritis with other complications (21 patients) or patients with complications other than lupus nephritis (4 patients).
Results: All patients included in this study were subjected after taking their parents' consent to full history taking laying stress on history of complications mainly lupus nephritis. In addition, laboratory investigations which include CBC, tests for confirmation of SLE as ANA, anti dsDNA, C3, lupus anticoagulant, anticardiolipin IgG and IgM and renal function tests as serum creatinine and 24hrs urinary proteinsm were done. The Factor V gene mutation was determined by the method of PCR-based DNA analysis in both control and patient groups. In control group, there was 1 out of 25 patients having the Factor V Leiden mutation; who had a heterozygous pattern. The prevalence of Factor V Leiden in patients group showed 2 out of 25 patients, both of them had a heterozygous pattern of the gene mutation.
Conclusion: This study couldn't demonstrate any correlation between the presence of Factor V Leiden mutation and the presence of complications in SLE patients as there was no statistical significant difference (P >0.05).