Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

Angelo Baldassare Cefalu', Maurizio Averna, Davide Noto, Luis Masana, Renato Fellin, Enzo Manzato, Rosa Maria Sánchez-Hernández, Cesare Sirtori, Ilenia Minicocci, Pablo Prieto-Matos, Anja Vogt, Barbara Sjouke, Laura D'Erasmo, Francisco J. Fuentes, Cesare Sirtori, Chiara Pavanello, Marco Scardapane, Josè T. Real, Josè T. Real, Juan F. AscasoEduardo Esteve Lafuente, Rosa Maria Sánchez-Hernández, Cesare Sirtori, Janine E. Roeters Van Lennep, Paolo Pintus, Sabina Zambon, Mariko Harada-Shiba, Giovanni Mario Pes, Stefano Bertolini, Laura Calabresi, Antonio Nicolucci, Miguel Pocovi, Pedro Mata, Sandro Muntoni, Alberto Zambon, Marcello Arca, Francisco J. Fuentes, Adolfo Arturo Pacifico

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)279-288
Number of pages10
JournalJournal of the American College of Cardiology
Publication statusPublished - 2018

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine


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