Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder characterised by severe hypercholesterolaemia leading to premature coronary artery disease (CAD). Oxidised low-density lipoprotein (ox-LDL), F2-isoprostanes (ISP) and malondialdehyde (MDA) are established oxidative stress biomarker, but the status of oxidative stress in FH is not well studied. The aim of this study is to investigate oxidative stress status among FH patients and normocholesterolaemic control (NC) subjects. Ninety-eight FH patients and 100 (age, gender and BMI matched) NC subjects were recruited in series of health screening programmes across the country. Fasting blood samples were analysed for serum ox-LDL, ISP and MDA. Ox-LDL, ISP and MDA concentrations were higher in FH groups compared to NC (mean±SEM: 63.0±6.5 vs 25.5±1.2 (U/l), p
Familial hypercholesterolaemia (FH) is a genetic disease that causes the elevation of lowdensity lipoprotein cholesterol (LDL-C), which subsequently leads to premature coronary heart disease (CHD). Features which have been reported to be associated with FH include lipids level, tendon xanthomata, and history of CHD. The Ordinal Logistic Regression model using the classification of FH patients with the Dutch Lipid Clinic Network Criteria (DLCN) as the dependent variable (where 1=Possible, 2=Probable, 3=Definite) was developed and evaluated for different types of link functions. The FH patients (n = 449) were recruited from health screening programmes conducted in hospitals and clinics in Malaysia from 2010 to 2018. Results indicate there is a significant association between FH categories with demographic factors (ethnicity and smoking) and physical symptoms (corneal arcus and xanthomata). The Ordinal Logistic Regression using Cauchit link function has lower Akaike Information Criterion (AIC) value, higher Nagelkerke’s R-Square and classification accuracy compared to Probit and Logit link function, diastolic blood pressure, corneal arcus and xanthomata were found to be significant covariates of FH.