Exploring Multi-Omics Approaches to Familial Hypercholesterolemia in the Middle East

Hussam Daghistani, Hadiah Bassam Al Mahdi, Zuhier Awan, Sherif Edris

Abstract


Familial hypercholesterolemia (FH), an autosomal-dominant hereditary disorder of lipid metabolism, results in significantly elevated plasma levels of low-density cholesterol (LDL-C), significantly increasing the risk of premature cardiovascular disease (CVD). Given the high prevalence of consanguinity in Middle Eastern populations, FH is more common in the region and necessitates tailored diagnostic and therapeutic strategies. This review explores the role of multi-omics approaches—including genomics, transcriptomics, proteomics, metabolomics, lipidomics, and epigenomics—in understanding FH pathophysiology and developing precision medicine strategies tailored to Middle Eastern populations. Recent genomic studies have identified LDLR, APOB, and PCSK9 mutations contributing to a high burden of FH. Metabolomic and lipidomic analyses reveal distinct biochemical alterations, including oxidative stress markers and lipid metabolism disruptions, while transcriptomic and epigenetic findings suggest variations in gene expression and statin responsiveness. Despite these advancements, multi-omics research in the Middle East is limited by high costs, restricted access to genetic testing, and the absence of national FH registries. Multi-omics approaches provide critical insights into FH pathophysiology and treatment. To optimize FH management in the Middle East, efforts should focus on expanding genetic screening programs, integrating multi-omics data into clinical practice, and addressing financial and ethical concerns. Strengthening regional collaborations and leveraging artificial intelligence-based analytics will further enhance precision medicine for FH.

Keywords: Familial hypercholesterolemia; Multi-omics; Middle East; Genetic testing 


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DOI: http://dx.doi.org/10.62940/als.v12i4.3857

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