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Title: Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.
Authors: D'Erasmo, Laura
Minicocci, Ilenia
Nicolucci, Antonio
Pintus, Paolo
Roeters Van Lennep, Janine E
Masana, Luis
Mata, Pedro
Sánchez-Hernández, Rosa Maria
Prieto-Matos, Pablo
Real, Josè T
Ascaso, Juan F
Lafuente, Eduardo Esteve
Pocovi, Miguel
Fuentes, Francisco J
Muntoni, Sandro
Bertolini, Stefano
Sirtori, Cesare
Calabresi, Laura
Pavanello, Chiara
Averna, Maurizio
Cefalu, Angelo Baldassare
Noto, Davide
Pacifico, Adolfo Arturo
Pes, Giovanni Mario
Harada-Shiba, Mariko
Manzato, Enzo
Zambon, Sabina
Zambon, Alberto
Vogt, Anja
Scardapane, Marco
Sjouke, Barbara
Fellin, Renato
Arca, Marcello
Keywords: atherosclerotic cardiovascular disease;autosomal recessive hypercholesterolemia;follow-up;lipid-lowering therapies;retrospective analysis
metadata.dc.subject.mesh: Adolescent
Cardiovascular Diseases
Child, Preschool
Cholesterol, LDL
Cohort Studies
Follow-Up Studies
Longitudinal Studies
Middle Aged
Retrospective Studies
Time Factors
Treatment Outcome
Young Adult
Issue Date: 2018
Abstract: 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.
metadata.dc.identifier.doi: 10.1016/j.jacc.2017.11.028
Appears in Collections:Producción 2020

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