TY - JOUR
T1 - Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes
AU - Cefalu', Angelo Baldassare
AU - Averna, Maurizio
AU - Masana, Luis
AU - Fellin, Renato
AU - Manzato, Enzo
AU - Sánchez-Hernández, Rosa Maria
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 - Sirtori, Cesare
AU - Pavanello, Chiara
AU - Scardapane, Marco
AU - Real, Josè T.
AU - Real, Josè T.
AU - Ascaso, Juan F.
AU - Lafuente, Eduardo Esteve
AU - Sánchez-Hernández, Rosa Maria
AU - Sirtori, Cesare
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 - Fuentes, Francisco J.
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 -