Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

PURPOSE OF REVIEW: Familial hypercholesterolemia is an inherited disorder where cases have a significantly higher risk of having premature myocardial infarction than noncases. The prevalence of this genetic disease is currently unknown in countries of the Middle East and North Africa region. Given that a high percentage of marriages are consanguineous in this region, the prevalence may be much higher than assumed. We systematically reviewed the literature to identify case-related mutations reported within the last 4 years and since our first report in 2014.

RECENT FINDINGS: Mutations were reported in familial hypercholesterolemia cases from the Saudi, Iranian, Lebanese, and Syrian populations. Some of the mutations were novel and a variety of familial hypercholesterolemia genotypes were identified, such as compound heterozygotes and double heterozygotes.

SUMMARY: In recent years, work has been done to identify familial hypercholesterolemia cases in various countries of the Middle East and North Africa region. With regards to the prospective familial hypercholesterolemia registry for the Middle East and North Africa region, an important goal for the near future would be to have physician specialists collaborate with primary care clinicians for the identification and optimal care of familial hypercholesterolemia cases.