Abstract
The exponential expansion of genomic data coupled with the lack of appropriate clinical categorization of the variants is posing a major challenge to conventional medications for many common and rare diseases. To narrow this gap and achieve the goals of personalized medicine, a collaborative effort should be made to characterize the genomic variants functionally and clinically with a massive global genomic sequencing of “healthy” subjects from several ethnicities. Familial-based clustered diseases with homogenous genetic backgrounds are amongst the most beneficial tools to help address this challenge. This review will discuss the diagnosis, management, and clinical monitoring of familial hypercholesterolemia patients from a wide angle to cover both the genetic mutations underlying the phenotype, and the pharmacogenomic traits unveiled by the conventional and novel therapeutic approaches. Achieving a drug-related interactive genomic map will potentially benefit populations at risk across the globe who suffer from dyslipidemia.
Highlights
Familial hypercholesterolemia (FH) is the most common and first acquired pathology of lipoprotein metabolism to be characterized genetically and clinically [1]. It is identified by elevated levels of absolute low-density lipoprotein cholesterol (LDL-C) in the blood, early-onset of atherosclerotic cardiovascular diseases (ASCVD), fat accumulation in external tissues, and tendon and cutaneous xanthomas [2]
Several investigations have noticed that the physiological effect of lipid-modifying drugs, especially statin, and the lipid profile in heterozygous FH subjects is affected by the presence of LDLR variants and the type of mutation
Simvastatin 40 mg TC reduction is higher in patients with FH2 than FH1
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Cys681X) was predominantly combined with familial hypercholesterolemia in nearly 82% of Lebanese cases This Lebanese allele leads to a LDLR loss-of-function (null) defect and attenuates hepatic metabolism and removal of LDL-C and is believed to lead to a very severe phenotype [9]. In extreme cases of FH, genetic screening could potentially be used to examine the response variability and, to effectively personalize the therapeutic care plan for the anti-lipid interventions and CVD risk preventions Under this scenario, this review will discuss the management of familial hypercholesterolemia with the standard and innovative therapeutic strategies from the prospect of pharmacogenomics and its link to the causative genetic mutations underlying the phenotype
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