The proposed research will deploy as cross-sectional study including treated adults with genetically-defined HeFH. Once recruited, participants will be asked to complete web-based questionnaires on diet, medication and lifestyle. They will thereafter complete a clinical assessment at the Clinical Investigation Unit of the NUTRISS-INAF Research Centre. Study staff will measure participants' height, weight, and waist circumference. Participants' blood pressure will be measured using an automatic blood pressure monitor (BP Thru, Omron) after sitting quietly for 10 minutes. Three sequential readings will be taken with three minutes between readings. Fasting blood samples (10 mL) will be collected from an antecubital vein. Body composition will be assessed with dual-energy X-ray absorptiometry (DEXA). Finally, participants will be asked to provide the full list of medication they are using, including type, dose and duration of use. Later on the same day, participants will undergo the non-contrast CT scan at the Quebec Heart and Lung Institute. Multidetector CT scans without contrast will be performed using a 256 slices helical scanner (Brilliance iCT, Philips).
The overarching objective is to evaluate the relationship between diet and coronary artery calcification in patients with heterozygous familial hypercholesterolemia (HeFH). We will recruit adults with HeFH. They will have to complete questionnaires on diet, medication and lifestyle. Coronary artery calcification will be measured in each patient using a CT scan. Physiological and biochemical data will be collected.