Familial hypercholesterolemia (FH) is a common inherited cause of raised cholesterol (hypercholesterolemia), causing early heart disease and early death. This can be effectively prevented by taking cholesterol-lowering medication. It is estimated that between 1 in 250 and 1 in 500 of the world population are affected by FH. The World Health Organization has recognized FH as a public health concern since 1998. However, most people with FH are not identified and remain untreated. Without appropriate cholesterol-reducing treatment, such as statins, these individuals can develop early coronary heart disease (CHD) with up to 50% of men likely to develop CHD by age 50 years and 30% of women similarly affected by age 60 years. The overall aim of the study is to explore whether the identification and management of severe hypercholesterolemia can be improved in the Qatari population by using better case-finding tools and Qatari-specific genomic tests. The prevalence and genetic architecture of FH will be determined in the Qatari population. A comprehensive Qatari-specific gene panel for genetic testing of FH will be developed. Different precision medicine strategies for the identification and management of FH will be evaluated and the optimal strategy will be identified. The findings from this project will be useful clinically in assessing patients with inherited hypercholesterolemia and identify those with a high risk of inherited forms for genetic testing using a Qatar-specific panel for delivering better diagnosis and intervention to prevent the development of CHD and associated complications.
$573,223 for three years.