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Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long‐Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events by Laura D’Erasmo; Ilenia Minicocci; Alessia Di Costanzo; Giovanni Pigna; Daniela Commodari; Fabrizio Ceci; Anna Montali; Francesca Brancato; Ilaria Stanca; Antonio Nicolucci; Andrea Ascione; Nicola Galea; Iacopo Carbone; Marco Francone; Marianna Maranghi; Marcello Arca is a Medicine article available to read on EtoBox.

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## Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic variants in FH‐causing genes as well as from a polygenic cause. We evaluated the relationships between monogenic FH and polygenic hypercholesterolemia in influencing the long‐term response to therapy and the risk of atherosclerosis. ## Methods and Results A cohort of 370 patients with clinically diagnosed FH were screened for monogenic mutations and a low‐density lipoprotein‐rising genetic risk score >0.69 to identify polygenic cause. Medical records were reviewed to estimate the response to lipid‐lowering therapies and the occurrence of major atherosclerotic cardiovascular events during a median follow‐up of 31.0 months. A subgroup of patients (n=119) also underwent coronary computed tomographic angiography for the evaluation of coronary artery calcium score and severity of coronary stenosis as compared with 135 controls. Two hundred nine (56.5%) patients with hypercholesterolemia were classified as monogenic (FH/M+), 89 (24.1%) as polygenic, and 72 (19.5%) genetically undefined (FH/M−). The response to lipid‐lowering therapy was poorest in monogenic, whereas it was comparable in patients with po

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Author

Laura D’Erasmo; Ilenia Minicocci; Alessia Di Costanzo; Giovanni Pigna; Daniela Commodari; Fabrizio Ceci; Anna Montali; Francesca Brancato; Ilaria Stanca; Antonio Nicolucci; Andrea Ascione; Nicola Galea; Iacopo Carbone; Marco Francone; Marianna Maranghi; Marcello Arca

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

2021

Language

EN

Field

Medicine (Health Sciences)