Published: 19 January 2024
Author(s): Asiiat Alieva, Alessia Di Costanzo, Marta Gazzotti, Olga Reutova, Elena Usova, Viktoria Bakaleiko, Marcello Arca, Laura D'Erasmo, Fabio Pellegatta, Federica Galimberti, Elena Olmastroni, Alberico L Catapano, Manuela Casula
Issue: May 2024
Section: Original Article

Familial hypercholesterolemia (FH) (MONDO:0007750) is a genetically determined monogenic disorder of predominantly autosomal dominant inheritance, which leads to a significant increase in low-density lipoprotein cholesterol (LDL-C) and the development and progression of atherosclerosis [1]. Early diagnosis of FH is the cornerstone for timely initiation of lipid-lowering therapy and prevention of cardiovascular disease (CVD). The diagnostic efficiency of FH relies on screening based on clinical and genetic criteria [1,2].


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