The Prevalence of Different Genotypic Forms of Familial Hypercholesterolemia in Relation to Race and Ethnicity

Abstract

In the present study, a systematic literature review was conducted to examine the prevalence of homo- and heterozygous forms of Familial hypercholesterolemia among different racial and ethnic groups. Familial hypercholesterolemia (FH) is an inherited disorder characterised by elevated blood levels of cholesterol and low-density lipoprotein (LDL), which increases the risk of cardiovascular disease. Databases PubMed, Web of Science, and Elsiever were searched and only peer-reviewed articles with a large number of contributors and sufficient prevalence and ethnicity data were included. Diagnosis of FH was based on genetic testing or clinical criteria. The results of the study indicate inadequate and untimely diagnosis of FH, resulting in inadequate treatment. To date, only 9% of countries have statistical data on the prevalence of FH in the general population. In order to develop effective prevention strategies for cardiovascular diseases associated with FH, further research is needed to obtain accurate epidemiological data, including the race and ethnicity of patients. This will allow optimisation of strategies to reduce the burden of preventable cardiovascular disease associated with FH.

Keywords

• Familial hypercholesterolemia
• cardiovascular disease
• low-density lipoprotein
• genes