TRANSLATIONAL RESEARCH FOR IMPROVING THE CARE OF FH ACROSS SEVERAL COUNTRIES

Familial hypercholesterolemia (FH) is the most common and serious form of inherited hyperlipidaemia. Dominantly inherited with a high penetrance, untreated FH leads to premature death from coronary artery disease due to accelerated atherosclerosis from birth. Screening enables early evidence‐based and cost‐effective interventions, such as diet and lifestyle measures and cholesterol‐lowering medications which decrease the risk of heart disease. Despite the medical importance of FH, there is still a major shortfall in awareness, detection and treatment of FH worldwide. Internationally recognised models of care of FH have recently been published, but their implementation requires essential knowledge that is lacking about FH. This project aims to investigate selected diagnostic, epidemiological and service aspects, as well as primary care physician awareness and patient perceptions, of FH across several countries in the Asia‐Pacific Region and the Southern Hemisphere. The value and significance of the data garnered is to inform best practice in the care of FH and to develop local and regional models of care. Five observational studies will be undertaken that will investigate phenotypic predictors of low‐density lipoprotein receptor mutations, the point prevalence of FH in unselected community populations, knowledge and practices of primary care physicians concerning FH, availability and utilization of services and facilities for the care of FH, and patient perceptions and personal experiences of FH. A related objective is to close gaps in knowledge and awareness of FH through an educational program that will be provided under the aegis of country‐specific societies that are members of the International Atherosclerosis Society.