Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry

Abstract

Background: Familial hypercholesterolemia (FH) is a well-understood Mendelian disorder that increases the risk of cardiovascular disease (CVD), a leading cause of mortality in Middle Eastern and North African (MENA) countries.

Objective: Review the reporting status of FH mutations across MENA and propose a systemic and strategic method for building a MENA FH registry.

Methods: Systematic literature search for statistics pertaining to CVD and comparison of number of FH mutations reported in MENA countries and countries with established FH registries.

Results: Only 57 mutations were reported in 17 MENA countries, whereas more than 500 mutations reported in 3 Western countries. Mortality rates due to CVD were significantly higher in MENA countries compared with Western countries.

Conclusions: The relatively low reporting of FH mutations in the consanguineous MENA communities with higher prevalence of CVD indicates poor awareness of CVD genetic risk and warrants a registry to prevent premature CVD due to FH. This registry will help in identifying novel and reported FH mutations, all of which will have clinical and research benefits in MENA countries.

Keywords: Cardiovascular diseases; Cascade testing; Familial hypercholesterolemia registry; Genetic screening; Mutations.