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

Zuhier A Awan¹, Nabeel S Bondagji², Mary A Bamimore^1,3

¹Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University.

Current Opinion in Lipidology

|January 30, 2019

Insights

Familial hypercholesterolemia (FH) is an inherited condition increasing heart attack risk. Research is ongoing to determine FH prevalence and identify genetic mutations in the Middle East and North Africa region.

Area of Science:

Genetics and Cardiovascular Disease
Public Health in MENA Region

Background:

Familial hypercholesterolemia (FH) is a prevalent genetic disorder.
FH significantly elevates the risk of premature myocardial infarction.
The prevalence of FH in the Middle East and North Africa (MENA) region is largely unknown.

Purpose of the Study:

To review and identify case-related mutations for familial hypercholesterolemia (FH) in the Middle East and North Africa (MENA) region.
To assess the current understanding of FH prevalence in the MENA region, considering consanguinity rates.

Main Methods:

Systematic literature review.
Identification of familial hypercholesterolemia (FH) case-related mutations reported in the last 4 years and since 2014.
Analysis of FH genotypes in Saudi, Iranian, Lebanese, and Syrian populations.

Main Results:

Mutations associated with familial hypercholesterolemia (FH) were identified in Saudi, Iranian, Lebanese, and Syrian populations.
Novel mutations and diverse FH genotypes, including compound and double heterozygotes, were discovered.
Ongoing efforts are focused on identifying FH cases across the MENA region.

Conclusions:

The study highlights the need for increased awareness and research into familial hypercholesterolemia (FH) in the Middle East and North Africa (MENA).
Collaboration between specialists and primary care clinicians is crucial for identifying and managing FH cases effectively.
Establishing a prospective FH registry for the MENA region is a key future objective.

Read full analysis

Abstract

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.

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