Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes
- Autori: 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
- Anno di pubblicazione: 2018
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/273581
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 Â± 17.1 years of age; baseline LDL-C: 571.9 Â± 171.7 mg/dl). During a mean follow-up of 14.1 Â± 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 Â± 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.