D'Erasmo, LauraMinicocci, IleniaNicolucci, AntonioPintus, PaoloRoeters Van Lennep, Janine EMasana, LuisMata, PedroSanchez-Hernandez, Rosa MariaPrieto-Matos, PabloReal, Jose TAscaso, Juan FLafuente, Eduardo EstevePocovi, MiguelFuentes, Francisco JMuntoni, SandroBertolini, StefanoSirtori, CesareCalabresi, LauraPavanello, ChiaraAverna, MaurizioCefalu, Angelo BaldassareNoto, DavidePacifico, Adolfo ArturoPes, Giovanni MarioHarada-Shiba, MarikoManzato, EnzoZambon, SabinaZambon, AlbertoVogt, AnjaScardapane, MarcoSjouke, BarbaraFellin, RenatoArca, Marcello2023-01-252023-01-252018-01-23D'Erasmo L, Minicocci I, Nicolucci A, Pintus P, Roeters Van Lennep JE, Masana L, Mata P, et al. Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. J Am Coll Cardiol. 2018 Jan 23;71(3):279-288http://hdl.handle.net/10668/12028Autosomal 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  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.enAtherosclerotic cardiovascular diseaseAutosomal recessive hypercholesterolemiaFollow-upLipid-lowering therapiesRetrospective analysisAdolescentAdultAgedCardiovascular DiseasesChildChild, PreschoolCholesterol, LDLCohort StudiesFemaleFollow-Up StudiesHumansHypercholesterolemiaLongitudinal StudiesMaleMiddle AgedRetrospective StudiesTime FactorsTreatment OutcomeYoung Adultresearch article29348020open accessAdolescenteAdulto JovenAdultoAncianoEnfermedades CardiovascularesEstudios LongitudinalesEstudios RetrospectivosHipercolesterolemiaFactores de TiempoPersona de Mediana EdadResultado del Tratamiento10.1016/j.jacc.2017.11.0281558-3597https://doi.org/10.1016/j.jacc.2017.11.028