Main Organiser

Julius Centre University of Malaya

Co-organiser

Department of Social and Preventive Medicine, Faculty of Medicine, University of Malay

Supported by

University of Malaya

CLINICAL AND GENETIC RISK FACTORS OF CVD AMONG MALAYSIAN FAMILILIAL HYPERCHOLETROLEMIC PATIENTS

Author

Alyaa R Al-Khateeb , Mohd S Mohamed , Zilfalil B Alwi , Zurkurnai Yusof

Institution

Department of Biochemistry, Faculty of Medicine, UiTM, Malaysia

Abstract

Objectives: The aim of this study was to determine the effect of genetic and classic risk factors on the development of cardiovascular disease in a cohort of Malaysian patients with clinical diagnosis of FH.

Methods: One hundred and sixty-four subjects who fulfilled the Simon Broome Familial Hypercholesterolemia Register diagnostic criteria for FH were collected from the Cardiology Clinic HUSM. All patients were investigated for cardiovascular disease. All the patients were screened for point mutations in both LDLR and APOB100 genes with Denaturating High Performance Liquid Chromatography and confirmed by sequencing.

Results: Good proportion of the study group presented with CVD (68.3%). Those with CVD have a significantly higher proportion of gene sequence variants in LDLR gene and APOB-100 gene than those without CVD (P=0.002). The independent predictors of CVD, were age of patients (OR=1.04, CI 95%:1.0-1.1), type of clinical diagnosis (OR= 3.3, CI 95%: 1.2-8.9), family history PCVD (OR=2.5 CI 95%: 1.2-5.4). Mutation in LDLR gene (OR= 3.5, CI 95%: 1.1-10.8), LDLR polymorphism (OR= 3.1, CI 95%: 1.1-8.5), lastly carriers of both gene defects have a just more than 6 times risk to develop CVD than the non-mutated group (OR= 6.2 CI 95%: 1.4- 20.6).

Conclusion: Genetic risk factors are important predictors for CVD among familial hypercholestrolemic patients