The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry

Faisal Alallaf1, #, *, Fatima Amanullah H.Nazar2, #, Majed Alnefaie3, Adel Almaymuni3, Omran Mohammed Rashidi3, Khalid Alhabib4, Fahad Alnouri5, Mohamed-Nabil Alama6, Mohammad Athar7, Zuhier Awan3, *
1 Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Mekkah. Saudi Arabia
2 Department of Biology, Genomic and Biotechnology Section, Faculty of Science, King Abdulaziz University, Jeddah. Saudi Arabia
3 Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah. Saudi Arabia
4 Interventional Cardiology, King Fahad Cardiac Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia
5 Cardiovascular Prevention and Rehabilitation Unit, Prince Sultan Cardiac Centre, Riyadh, Saudi Arabia
6 Adult interventional cardiology, Cardiology unit, King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia
7 Department of Science and Technology, Umm Al-Qura University, Mekkah, Saudi Arabia

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Creative Commons License
© 2017 Alallaf et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

# Equal contribution and shared first authorship* Address correspondence to this author at the Clinical Biochemistry Department, King Abdulaziz University, Abdullah Sulayman, Jeddah 22254, Saudi Arabia; Tel: 055-559-9894; E-mails:,



Familial hypercholesterolemia (FH) is a life-threatening inherited condition. Untreated patients have the risk to develop raised plasma levels of cholesterol, atherosclerosis and cardiovascular disease (CVD). If diagnosed and treated early in life, the pathological consequences due to atherosclerosis could be avoided and patients with FH can have an anticipated normal life. Mounting evidence suggests that FH is underdiagnosed and undertreated in all populations. The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9). However, their prevalence is largely unknown in Saudi Arabia but given the high rates of consanguinity, the prevalence appears to be higher. Furthermore, the high prevalence of obesity and diabetes mellitus in Saudi Arabia increases the vascular disease burden in FH cases by adding additional CVD risk factors.


This article explores the spectrum of FH-causing mutations in the highly consanguineous Saudi community, the need for establishing the Saudi FH registry, the challenges in creating gene databases, and cascade screening.


The establishment of FH registry and genetic testing should raise awareness not only among healthcare professionals, but the general population as well. It also helps to provide the best treatment regimen in a cost effective manner to this under-recognised population of FH patients.

Keywords: Familial hypercholesterolemia, Cardiovascular disease, FH registry, Cascade screening, Mutations, Genetic screening.