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Regulatory Non-Coding RNAs in Familial Hypercholesterolemia, Theranostic Applications

Regulatory Non-Coding RNAs in Familial Hypercholesterolemia, Theranostic Applications

Source : https://www.frontiersin.org/articles/10.3389/fcell.2022.894800/full

Familial hypercholesterolemia (FH) is a common monogenic disease which is associated with high serum levels of low-density lipoprotein cholesterol (LDL-C) and leads to atherosclerosis and cardiovascular disease (CVD). Early diagnosis...



Relevance: In this review, we briefly discussed the mechanisms and pathophysiology of FH and novel therapeutic strategies for the treatment of FH. Moreover, the theranostic effects of different non-coding RNAs for the treatment and diagnosis of FH were highlighted. Finally, the advantages and disadvantages of ncRNA-based therapies vs....

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Relevance: This systematic review and network meta-analysis of randomized controlled trials compared the impact of ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9-i) on cardiovascular (CV) outcomes in patients taking maximally tolerated statin therapy or who were statin-intolerant.


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  • 3yr
    In patents with high to very high-risk cardiovascular risk who are on maximal dose of statin that is tolerated, adding ezetimibe and PCS9-i is recommended to achieve beneficial effects.
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Retinal Microvascular Changes in Familial Hypercholesterolemia: Analysis with Swept-Source Optical Coherence Tomography Angiography - PubMed

Retinal Microvascular Changes in Familial Hypercholesterolemia: Analysis with Swept-Source Optical Coherence Tomography Angiography - PubMed

Source : https://pubmed.ncbi.nlm.nih.gov/35743656/

Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder affecting cholesterol metabolism, leading to atherosclerotic disease. The relationship between retinal microvascular changes and the presence of atheroma in patients...



Relevance: Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder affecting cholesterol metabolism, leading to atherosclerotic disease. The relationship between retinal microvascular changes and the presence of atheroma in patients with FH (FH group), and in comparison to volunteers without FH (CT group), needs...

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  • 3yr
    Interesting to note that sample population belonging to the FH group are older than those in the control group although the study mentioned that this has no statistical difference. If Show More
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Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study - Lipids in Health and Disease

Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study - Lipids in Health and Disease

Source : https://lipidworld.biomedcentral.com/articles/10.1186/s12944-022-01666-2

Background Heterozygous familial hypercholesterolemia (HeFH) due to low-density lipoprotein receptor (LDLR) mutations predisposes patients to highly elevated levels of cholesterol, and patients are at increased risk of adverse cardiovascular events...



Conclusion: In Denmark, LDLR mutation-carrying HeFH relatives did not have a different cancer risk than the general population. In contrast, nonmutation-carrying relatives had a lower risk of cancer.

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  • 3yr
    Interesting study and kudos to the researchers for being able to follow-up patients long-term. Will need more studies and probably see if also applicable in other countries. This study also Show More
  • 3yr
    Key Takeaways • Source: Lipids in Health and Disease • Conclusion: “In Denmark, LDLR mutation-carrying HeFH relatives did not have a different cancer risk than the general population. In contrast, nonmutation-carrying relatives had a Show More
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Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia

Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia

Source : https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269713

Familial Hypercholesterolemia (FH) is an inherited disorder of cholesterol metabolism. Current criteria for FH diagnosis, like Simon Broome (SB) criteria, lead to high false positive rates. The aim of this...



Relevance: Familial Hypercholesterolemia (FH) is an inherited disorder of cholesterol metabolism. Current criteria for FH diagnosis, like Simon Broome (SB) criteria, lead to high false positive rates. The aim of this work was to explore alternative classification procedures for FH diagnosis, based on different biological and biochemical...

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  • 3yr
    FH diagnosis, based on different biological and biochemical indicators