Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

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 l...

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Detalles Bibliográficos
Autores: D'Erasmo, Laura, Minicocci, Ilenia, Nicolucci, Antonio, Pintus, Paolo, Roeters Van Lennep, Janine E, Masana, Luis, Mata, Pedro, Sánchez-Hernández, Rosa María, Prieto Matos, Pablo, Real, José 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/155662
Acceso en línea:http://hdl.handle.net/10366/155662
Access Level:acceso abierto
Palabra clave:Cardiovascular Diseases
Aged
Young Adult
Hypercholesterolemia
Adult
Cholesterol
Follow-Up Studies
Humans
Hyperlipoproteinemia Type III
Adolescent
Middle Aged
Longitudinal Studies
Time Factors
Treatment Outcome
Cohort Studies
Retrospective Studies
hiperlipoproteinemia tipo III
humanos
factores de tiempo
anciano
estudios de seguimiento
mediana edad
estudios retrospectivos
adolescente
colesterol
adulto
adulto joven
enfermedades cardiovasculares
resultado del tratamiento
estudios de cohortes
estudios longitudinales
hipercolesterolemia
Descripción
Sumario: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 <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 (≥30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. 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.

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