RT Journal Article
T1 Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.
A1 D'Erasmo, Laura
A1 Minicocci, Ilenia
A1 Nicolucci, Antonio
A1 Pintus, Paolo
A1 Roeters Van Lennep, Janine E
A1 Masana, Luis
A1 Mata, Pedro
A1 Sanchez-Hernandez, Rosa Maria
A1 Prieto-Matos, Pablo
A1 Real, Jose T
A1 Ascaso, Juan F
A1 Lafuente, Eduardo Esteve
A1 Pocovi, Miguel
A1 Fuentes, Francisco J
A1 Muntoni, Sandro
A1 Bertolini, Stefano
A1 Sirtori, Cesare
A1 Calabresi, Laura
A1 Pavanello, Chiara
A1 Averna, Maurizio
A1 Cefalu, Angelo Baldassare
A1 Noto, Davide
A1 Pacifico, Adolfo Arturo
A1 Pes, Giovanni Mario
A1 Harada-Shiba, Mariko
A1 Manzato, Enzo
A1 Zambon, Sabina
A1 Zambon, Alberto
A1 Vogt, Anja
A1 Scardapane, Marco
A1 Sjouke, Barbara
A1 Fellin, Renato
A1 Arca, Marcello
K1 Atherosclerotic cardiovascular disease
K1 Autosomal recessive hypercholesterolemia
K1 Follow-up
K1 Lipid-lowering therapies
K1 Retrospective analysis
AB 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. Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. 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. 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 (-69.6% from baseline), with a better response in patients taking lomitapide (-88.3%). Overall, 23.1% of ARH patients reached LDL-C of  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.
PB ELSEVIER
YR 2018
FD 2018-01-23
LK http://hdl.handle.net/10668/12028
UL http://hdl.handle.net/10668/12028
LA en
NO D'Erasmo L, Minicocci I, Nicolucci A, Pintus P, Roeters Van Lennep JE, Masana L, Mata P, et al.  Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. J Am Coll Cardiol. 2018 Jan 23;71(3):279-288
DS RISalud
RD Apr 17, 2025