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.
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.
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.
aDepartment of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University
bDepartment of Obstetrics and Gynecology, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
cDepartment of Epidemiology and Biostatistics, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Ontario, Canada
Correspondence to Zuhier A. Awan, MD, PhD, Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. Tel: +966555599894; fax +966126951696; e-mail: firstname.lastname@example.org
Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.co-lipidology.com).