Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation
WHAT IS CURRENTLY KNOWN ABOUT THIS TOPIC?: Familial hypercholesterolemia (FH) is characterized by elevated LDL-C levels. LDLR null mutations protected pancreatic β-cells from cholesterol accumulation. NGS has improved FH diagnosis by analysis of all genes implicated in the lipid disorder. WHAT IS THE KEY RESEARCH QUESTION?: What is the impact of FH genotype (monogenic with or without LDLR mutation/polygenic) on glycemic status? WHAT IS NEW?: FH population was characterized by a heterogeneous glycemic profile according to LDLR mutation. LDL-C and plasma glucose could modulate the distribution of subclinical atherosclerosis. HOW MIGHT THIS STUDYINFLUENCE CLINICAL PRACTICE?: Genetic, lipid, glucose data could better identify the metabolic and atherosclerotic profiles in FH.
Authors
- Marco Musmeci
- Nicoletta Miano (ORCID: https://orcid.org/0000-0003-0429-9807)
- Francesco Purrello (ORCID: https://orcid.org/0000-0003-3313-8543)
- Salvatore Piro (ORCID: https://orcid.org/0000-0002-1781-0902)
- Sabrina Scilletta (ORCID: https://orcid.org/0009-0001-9061-0368)
- Giosiana Bosco (ORCID: https://orcid.org/0009-0004-6036-927X)
- L. Masana (ORCID: https://orcid.org/0000-0002-0789-4954)
- Roberto Scicali
- Maurizio Di Marco (ORCID: https://orcid.org/0000-0001-9021-6101)
- Ana González-Lleó (ORCID: https://orcid.org/0000-0001-8174-501X)
- Ernestina Marianna De Francesco (ORCID: https://orcid.org/0000-0002-2810-6128)
- Daiana Ibarretxe (ORCID: https://orcid.org/0000-0002-5442-1930)
- Antonino Di Pino (ORCID: https://orcid.org/0000-0003-1705-2782)
- Roberta Malaguarnera (ORCID: https://orcid.org/0000-0003-4149-9488)
- Francesco Barbagallo (ORCID: https://orcid.org/0009-0007-2746-8104)
- Marina Martedì
Institutions
- Università degli Studi di Enna Kore (IT)
- University of Catania (IT)
- Institut de Recerca Biomèdica Catalunya Sud (ES)
- Ospedale Garibaldi (IT)
- Hospital Universitari Sant Joan de Reus (ES)
Publication Details
- Journal
- Cardiovascular Diabetology
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1186/s12933-025-02683-y
- Citations
- 28
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 56.18