Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.
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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
Аннотация
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.