Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

Maurizio Averna, Angelo Baldassare Cefalu', Luis Masana, Renato Fellin, Enzo Manzato, Cesare Sirtori, Ilenia Minicocci, Pablo Prieto-Matos, Anja Vogt, Barbara Sjouke, Laura D'Erasmo, Francisco J. Fuentes, Chiara Pavanello, Marco Scardapane, Josè T. Real, Juan F. Ascaso, Eduardo Esteve Lafuente, Rosa Maria Sánchez-Hernández, Janine E. Roeters Van Lennep, Paolo PintusSabina Zambon, Mariko Harada-Shiba, Giovanni Mario Pes, Stefano Bertolini, Laura Calabresi, Antonio Nicolucci, Miguel Pocovi, Pedro Mata, Sandro Muntoni, Alberto Zambon, Marcello Arca, Adolfo Arturo Pacifico, Davide Noto

Risultato della ricerca: Article

8 Citazioni (Scopus)

Abstract

Background: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods: Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results: We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years of age; baseline LDL-C: 571.9 ± 171.7 mg/dl). During a mean follow-up of 14.1 ± 7.3 years, there was a significant increase in the use of high-intensity statin and ezetimibe in combination with lipoprotein apheresis; in 6 patients, lomitapide was also added. Mean LDL-C achieved at nadir was 164.0 ± 85.1 mg/dl (â69.6% from baseline), with a better response in patients taking lomitapide (â88.3%). Overall, 23.1% of ARH patients reached LDL-C of <100 mg/dl. During follow-up, 26.9% of patients had incident ASCVD, and 11.5% had a new diagnosis of aortic valve stenosis (absolute risk per year of 1.9% and 0.8%, respectively). No incident stroke was observed. Age (â¥30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. Conclusions: Despite intensive treatment, LDL-C in ARH patients remains far from targets, and this translates into a poor long-term cardiovascular prognosis. Our data highlight the importance of an early diagnosis and treatment and confirm the fact that an effective treatment protocol for ARH is still lacking.
Lingua originaleEnglish
pagine (da-a)279-288
Numero di pagine10
RivistaJournal of the American College of Cardiology
Volume71
Stato di pubblicazionePublished - 2018

Fingerprint

LDL Cholesterol
Cardiovascular Diseases
Lipids
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Blood Component Removal
Aortic Valve Stenosis
Clinical Protocols
Autosomal Recessive Hypercholesterolemia
Lipoproteins
Coronary Artery Disease
Early Diagnosis
Stroke
Physicians
Therapeutics
BMS201038

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cita questo

Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. / Averna, Maurizio; Cefalu', Angelo Baldassare; Masana, Luis; Fellin, Renato; Manzato, Enzo; Sirtori, Cesare; Minicocci, Ilenia; Prieto-Matos, Pablo; Vogt, Anja; Sjouke, Barbara; D'Erasmo, Laura; Fuentes, Francisco J.; Pavanello, Chiara; Scardapane, Marco; Real, Josè T.; Ascaso, Juan F.; Lafuente, Eduardo Esteve; Sánchez-Hernández, Rosa Maria; Roeters Van Lennep, Janine E.; Pintus, Paolo; Zambon, Sabina; Harada-Shiba, Mariko; Pes, Giovanni Mario; Bertolini, Stefano; Calabresi, Laura; Nicolucci, Antonio; Pocovi, Miguel; Mata, Pedro; Muntoni, Sandro; Zambon, Alberto; Arca, Marcello; Pacifico, Adolfo Arturo; Noto, Davide.

In: Journal of the American College of Cardiology, Vol. 71, 2018, pag. 279-288.

Risultato della ricerca: Article

Averna, M, Cefalu', AB, Masana, L, Fellin, R, Manzato, E, Sirtori, C, Minicocci, I, Prieto-Matos, P, Vogt, A, Sjouke, B, D'Erasmo, L, Fuentes, FJ, Pavanello, C, Scardapane, M, Real, JT, Ascaso, JF, Lafuente, EE, Sánchez-Hernández, RM, Roeters Van Lennep, JE, Pintus, P, Zambon, S, Harada-Shiba, M, Pes, GM, Bertolini, S, Calabresi, L, Nicolucci, A, Pocovi, M, Mata, P, Muntoni, S, Zambon, A, Arca, M, Pacifico, AA & Noto, D 2018, 'Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes', Journal of the American College of Cardiology, vol. 71, pagg. 279-288.
Averna, Maurizio ; Cefalu', Angelo Baldassare ; Masana, Luis ; Fellin, Renato ; Manzato, Enzo ; Sirtori, Cesare ; Minicocci, Ilenia ; Prieto-Matos, Pablo ; Vogt, Anja ; Sjouke, Barbara ; D'Erasmo, Laura ; Fuentes, Francisco J. ; Pavanello, Chiara ; Scardapane, Marco ; Real, Josè T. ; Ascaso, Juan F. ; Lafuente, Eduardo Esteve ; Sánchez-Hernández, Rosa Maria ; Roeters Van Lennep, Janine E. ; Pintus, Paolo ; Zambon, Sabina ; Harada-Shiba, Mariko ; Pes, Giovanni Mario ; Bertolini, Stefano ; Calabresi, Laura ; Nicolucci, Antonio ; Pocovi, Miguel ; Mata, Pedro ; Muntoni, Sandro ; Zambon, Alberto ; Arca, Marcello ; Pacifico, Adolfo Arturo ; Noto, Davide. / Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. In: Journal of the American College of Cardiology. 2018 ; Vol. 71. pagg. 279-288.
@article{264863f4a6524390bc361705842b9501,
title = "Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes",
abstract = "Background: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods: Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results: We collected data for 52 patients (28 females, 24 males; 31.1 {\^A}± 17.1 years of age; baseline LDL-C: 571.9 {\^A}± 171.7 mg/dl). During a mean follow-up of 14.1 {\^A}± 7.3 years, there was a significant increase in the use of high-intensity statin and ezetimibe in combination with lipoprotein apheresis; in 6 patients, lomitapide was also added. Mean LDL-C achieved at nadir was 164.0 {\^A}± 85.1 mg/dl ({\^a}69.6{\%} from baseline), with a better response in patients taking lomitapide ({\^a}88.3{\%}). Overall, 23.1{\%} of ARH patients reached LDL-C of <100 mg/dl. During follow-up, 26.9{\%} of patients had incident ASCVD, and 11.5{\%} had a new diagnosis of aortic valve stenosis (absolute risk per year of 1.9{\%} and 0.8{\%}, respectively). No incident stroke was observed. Age ({\^a}¥30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. Conclusions: Despite intensive treatment, LDL-C in ARH patients remains far from targets, and this translates into a poor long-term cardiovascular prognosis. Our data highlight the importance of an early diagnosis and treatment and confirm the fact that an effective treatment protocol for ARH is still lacking.",
author = "Maurizio Averna and Cefalu', {Angelo Baldassare} and Luis Masana and Renato Fellin and Enzo Manzato and Cesare Sirtori and Ilenia Minicocci and Pablo Prieto-Matos and Anja Vogt and Barbara Sjouke and Laura D'Erasmo and Fuentes, {Francisco J.} and Chiara Pavanello and Marco Scardapane and Real, {Jos{\`e} T.} and Ascaso, {Juan F.} and Lafuente, {Eduardo Esteve} and S{\'a}nchez-Hern{\'a}ndez, {Rosa Maria} and {Roeters Van Lennep}, {Janine E.} and Paolo Pintus and Sabina Zambon and Mariko Harada-Shiba and Pes, {Giovanni Mario} and Stefano Bertolini and Laura Calabresi and Antonio Nicolucci and Miguel Pocovi and Pedro Mata and Sandro Muntoni and Alberto Zambon and Marcello Arca and Pacifico, {Adolfo Arturo} and Davide Noto",
year = "2018",
language = "English",
volume = "71",
pages = "279--288",
journal = "Journal of the American College of Cardiology",
issn = "0735-1097",
publisher = "Elsevier USA",

}

TY - JOUR

T1 - Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Masana, Luis

AU - Fellin, Renato

AU - Manzato, Enzo

AU - Sirtori, Cesare

AU - Minicocci, Ilenia

AU - Prieto-Matos, Pablo

AU - Vogt, Anja

AU - Sjouke, Barbara

AU - D'Erasmo, Laura

AU - Fuentes, Francisco J.

AU - Pavanello, Chiara

AU - Scardapane, Marco

AU - Real, Josè T.

AU - Ascaso, Juan F.

AU - Lafuente, Eduardo Esteve

AU - Sánchez-Hernández, Rosa Maria

AU - Roeters Van Lennep, Janine E.

AU - Pintus, Paolo

AU - Zambon, Sabina

AU - Harada-Shiba, Mariko

AU - Pes, Giovanni Mario

AU - Bertolini, Stefano

AU - Calabresi, Laura

AU - Nicolucci, Antonio

AU - Pocovi, Miguel

AU - Mata, Pedro

AU - Muntoni, Sandro

AU - Zambon, Alberto

AU - Arca, Marcello

AU - Pacifico, Adolfo Arturo

AU - Noto, Davide

PY - 2018

Y1 - 2018

N2 - Background: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods: Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results: We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years of age; baseline LDL-C: 571.9 ± 171.7 mg/dl). During a mean follow-up of 14.1 ± 7.3 years, there was a significant increase in the use of high-intensity statin and ezetimibe in combination with lipoprotein apheresis; in 6 patients, lomitapide was also added. Mean LDL-C achieved at nadir was 164.0 ± 85.1 mg/dl (â69.6% from baseline), with a better response in patients taking lomitapide (â88.3%). Overall, 23.1% of ARH patients reached LDL-C of <100 mg/dl. During follow-up, 26.9% of patients had incident ASCVD, and 11.5% had a new diagnosis of aortic valve stenosis (absolute risk per year of 1.9% and 0.8%, respectively). No incident stroke was observed. Age (â¥30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. Conclusions: Despite intensive treatment, LDL-C in ARH patients remains far from targets, and this translates into a poor long-term cardiovascular prognosis. Our data highlight the importance of an early diagnosis and treatment and confirm the fact that an effective treatment protocol for ARH is still lacking.

AB - Background: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods: Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results: We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years of age; baseline LDL-C: 571.9 ± 171.7 mg/dl). During a mean follow-up of 14.1 ± 7.3 years, there was a significant increase in the use of high-intensity statin and ezetimibe in combination with lipoprotein apheresis; in 6 patients, lomitapide was also added. Mean LDL-C achieved at nadir was 164.0 ± 85.1 mg/dl (â69.6% from baseline), with a better response in patients taking lomitapide (â88.3%). Overall, 23.1% of ARH patients reached LDL-C of <100 mg/dl. During follow-up, 26.9% of patients had incident ASCVD, and 11.5% had a new diagnosis of aortic valve stenosis (absolute risk per year of 1.9% and 0.8%, respectively). No incident stroke was observed. Age (â¥30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. Conclusions: Despite intensive treatment, LDL-C in ARH patients remains far from targets, and this translates into a poor long-term cardiovascular prognosis. Our data highlight the importance of an early diagnosis and treatment and confirm the fact that an effective treatment protocol for ARH is still lacking.

UR - http://hdl.handle.net/10447/273581

UR - http://www.elsevier.com/locate/jacc

M3 - Article

VL - 71

SP - 279

EP - 288

JO - Journal of the American College of Cardiology

JF - Journal of the American College of Cardiology

SN - 0735-1097

ER -