SARS-CoV-2 infection-related deregulation of blood lipids in a patient with -/-LDLR familial homozygous hypercholesterolemia: A case report

Bampatsias, Dimitrios; Dimopoulou, Angeliki-Maria; Karagiannakis, Dimitrios; Sianis, Alexandros; Korompoki, Eleni; Kantreva, Kanella; Psimenou, Erasmia; Trakada, Georgia; Papatheodoridis, George; Stamatelopoulos, Kimon

doi:10.1016/j.jacl.2023.02.001

Journal of Clinical Lipidology

2023

DOI: 10.1016/j.jacl.2023.02.001

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SARS-CoV-2 infection-related deregulation of blood lipids in a patient with -/-LDLR familial homozygous hypercholesterolemia: A case report

Dimitrios Bampatsias

Angeliki-Maria Dimopoulou

Dimitrios Karagiannakis

et al.

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2024

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Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia

Jotch,

Kindy

2024

Cardiogenetics

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Patients affected by familial hypercholesterolemia possess elevated low-density lipoprotein cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial hypercholesterolemia cases are associated with aberrant LDLR. Over 3500 LDLR variants have been identified, 15% of which are considered “pathogenic.” Given the genetic diversity of LDLR variants, specific variants rarely receive attention. However, investigators have proposed the critical evaluation of individual variants as a method to clarify knowledge and to resolve discrepancies in the literature. This article reviews p.(Val429Met) (rs28942078) in the areas of pathology, epidemiology, lipid-lowering therapy, and genetic testing. The p.(Val429Met) variant is associated with a missense point substitution in exon 9 of chromosome 19. Biochemical studies have found severely reduced low-density lipoprotein receptor protein in autologous and heterologous expression systems. Additionally, there are inconsistencies regarding the functional classification of p.(Val429Met). Considered to be of European origin, p.(Val429Met) is found in extant populations due to founder effects. Evidence from clinical trials have also demonstrated variable responses to newer lipid-lowering therapies in patients with a p.(Val429Met) variant. Proper clinical detection and adequate genetic testing have been shown to greatly improve outcomes. Future research may be aimed at resolving discrepancies to better comprehend the implications of familial hypercholesterolemia.

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Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia

Jotch,

Kindy

2024

Cardiogenetics

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SARS-CoV-2 infection-related deregulation of blood lipids in a patient with -/-LDLR familial homozygous hypercholesterolemia: A case report

Cited by 1 publication

References 18 publications

Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia

Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia

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