|Title:||Autosomal recessive hypercholesterolemia: long-term cardiovascular outcomes||Authors:||D'Erasmo, Laura
Roeters Van Lennep, Janine E.
Sánchez-Hernández, Rosa Maria
Real, Josè T.
Ascaso, Juan F.
Lafuente, Eduardo Esteve
Fuentes, Francisco J.
Cefalu, Angelo Baldassare
Pacifico, Adolfo Arturo
Pes, Giovanni Mario
|UNESCO Clasification:||3205 Medicina interna
|Keywords:||Atherosclerotic cardiovascular disease
Autosomal recessive hypercholesterolemia
|Issue Date:||2018||Journal:||Journal of the American College of Cardiology||Abstract:||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 (−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. 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.||URI:||http://hdl.handle.net/10553/41430||ISSN:||0735-1097||DOI:||10.1016/j.jacc.2017.11.028||Source:||Journal of the American College of Cardiology [ISSN 0735-1097], v. 71 (3), p. 279-288|
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