A variant in the fibronectin (FN1) gene, rs1250229-T, is associated with decreased risk of coronary artery disease in familial hypercholesterolaemia - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/35739058/
The FN1 rs1250229-T allele is inversely associated with CAD in patients with genetically confirmed FH, independently of traditional risk factors. While this finding requires replication, it suggests that the biology...
Conclusion: The FN1 rs1250229-T allele is inversely associated with CAD in patients with genetically confirmed FH, independently of traditional risk factors. While this finding requires replication, it suggests that the biology of fibronectin may contribute to variation in the risk of CAD in FH.
Introducing genetic testing with case finding for familial hypercholesterolaemia in primary care: qualitative study of patient and health professional experience
Source : https://bjgp.org/content/early/2022/06/13/BJGP.2021.0558
Background Familial hypercholesterolaemia (FH) is a common inherited condition causing elevated cholesterol, premature heart disease, and early death. Although FH can be effectively treated, over 80% of people with FH...
Conclusion: Introducing genetic testing with electronic case finding for FH in primary care was positively experienced by patients and practitioners. Further development of this approach could help improve detection of FH in the general population.
Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia
Source : https://www.tandfonline.com/doi/abs/10.1080/14712598.2022.2090242?journalCode=iebt20
Abstract Familial hypercholesterolemia is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) since birth and an exceedingly high risk of premature cardiovascular disease, especially in the...
Expert opinion: Most lipid-lowering agents available so far are insufficient to achieve an appropriate response in HoFH patients, who remain at very high cardiovascular risk. The inhibition of ANGPTL3 with evinacumab halves LDL-C levels in HoFH patients by an LDLR-independent mechanism. The results obtained so far have clearly indicated a...
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5
Source : https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_0050-22/_article
We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (). Three unrelated infantile patients who were breastfed and...
Relevance: We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5).
Major Concepts in Treatment with Bempedoic Acid and Inclisiran that Clinicians Need To Know - Current Atherosclerosis Reports
Source : https://link.springer.com/article/10.1007/s11883-022-01036-4
Purpose of Review There have been recent developments of novel therapeutic agents for lipid lowering. This article reviews treatment concepts for two of the newest lipid-lowering medications. Recent Findings Bempedoic...
Summary: Bempedoic acid and inclisiran represent new avenues of treatment for the prevention and treatment of cardiovascular disease. This will allow for more comprehensive care by addressing challenges with medication adherence, such as adverse effects to prior medications as well as ease of dosing.