Genetics of Early Onset Familial and Non-familial Coronary Artery Disease in a Cohort of Egyptian Patients | ||
| Cardiovascular Research Prove Journal | ||
| Volume 8, Issue 2, December 2024 PDF (1.25 M) | ||
| Document Type: Abstracts | ||
| DOI: 10.21608/cvrepj.2024.400096 | ||
| Abstract | ||
| Ischemic heart disease (IHD) is the main cause of death worldwide. Many factors are known to increase the risk of IHD. Dyslipidemia is one of the treatable risk factors that have polygenic and monogenic inheritance patterns. Familial hypercholesterolemia (FH) is the most common monogenic disorder affecting 1:100-250. It is estimated to affect up to 5% of patients with premature IHD. Dutch Lipid Clinic Network (DLCN), Simon Broom and Make Early Diagnosis to Prevent Early Death (MEDPED) criteria are made to establish the clinical diagnosis of FH, nevertheless, less than 10% of the cases with premature IHD are diagnosed as FH prior to presenting as IHD. Autosomal dominant (AD) FH is caused by mutations in some known genes. The most common causative gene is LDLR, and less commonly by APOB, PCSK9 and APOE genes. Autosomal recessive (AR) FH is caused by mutations in LDLRAP1, in addition to ABCG5/8 genes that cause sitosterolemia, which mimics FH. Genetic diagnosis is thus essential: to confirm the patient’s diagnosis, choose the optimum lipidlowering treatment and provide cascade screening for the family members of affected patients | ||
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