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

Awan, Zuhier A.a; Bondagji, Nabeel S.b; Bamimore, Mary A.a,c

Current Opinion in Lipidology: April 2019 - Volume 30 - Issue 2 - p 88–93
doi: 10.1097/MOL.0000000000000586
GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele
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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.

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: zawan@kau.edu.sa

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