Developing a national implementation strategy for enhancing the detection of familial hypercholesterolaemia: an Australian experience

Journal of clinical lipidology, Journal Year: 2025, Volume and Issue: unknown

Published: March 1, 2025

Language: Английский

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Implementation science and genetic testing for familial hypercholesterolemia

Current Opinion in Lipidology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 26, 2024

Purpose of review Familial hypercholesterolemia is a treatable genetic disorder cholesterol metabolism. Genetic testing the most specific method for diagnosing familial hypercholesterolemia, but it remains underutilized. Implementation science aims to bridge gap between evidence and practice and, thereby, support improved care. This presents current on use implementation improve hypercholesterolemia. Recent findings research has focused developing strategies testing, particularly cascade at-risk blood relatives known cases. Stakeholder informed aimed at improving communication families detection in primary care have been developed implemented. Findings demonstrate methods can help remove barriers uptake testing. Summary Significant gaps emphasize importance practical realistic approaches this preventable cause premature heart disease, recent efforts using shown some promising results. More studies are needed that address considerable care, including underutilization so all individuals receive best clinical

Language: Английский

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LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL

Lipids in Health and Disease, Journal Year: 2024, Volume and Issue: 23(1)

Published: March 21, 2024

Abstract Background Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed c.415G > A in low-density lipoprotein receptor ( LDLR ), an FH-related gene, pathogenic variant FH by silico analysis and functional experiments. Methods The proband his family were evaluated using the diagnostic criteria of Dutch Lipid Clinic Network. Whole-exome Sanger sequencing used to explore validate variants. analyses evaluate pathogenicity candidate its impact on protein stability. Molecular biochemical methods performed examine effects vitro. Results Four six participants had diagnosis FH. It was estimated likely pathogenic. Western blotting qPCR suggested does not affect expression. Functional studies showed may lead dyslipidemia impairing binding absorption LDL). Conclusion FH; it causes significant reduction LDLR’s capacity bind LDL, resulting impaired LDL uptake. These findings expand spectrum variants associated with

Language: Английский

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A contemporary snapshot of familial hypercholesterolemia registries

Current Opinion in Lipidology, Journal Year: 2024, Volume and Issue: 35(6), P. 297 - 302

Published: Oct. 7, 2024

Familial hypercholesterolemia (FH) registries can capture unique data on FH concerning real-world practice, clinic epidemiology, natural history, cascade testing, cardiovascular consequences of late diagnosis, and use healthcare resources. Such are also valuable for identifying bridging the gaps between guidelines clinical practice. We reviewed recent findings from principal registries.

Language: Английский

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Familial Hypercholesterolemia and Cardiovascular Outcomes Amongst Younger Patients Undergoing Coronary Bypass Surgery

Heart Lung and Circulation, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

Language: Английский

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