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RESEARCH PRODUCT
Autosomal Recessive Hypercholesterolemia Long-Term Cardiovascular Outcomes
Laura D'erasmoIlenia MinicocciAntonio NicolucciPaolo PintusJanine E. Roeters Van LennepLuis MasanaPedro MataRosa Maria Sánchez-hernándezPablo Prieto-matosJosè T. RealJuan F. AscasoEduardo Esteve LafuenteMiguel PocoviFrancisco J. FuentesSandro MuntoniStefano BertoliniCesare SirtoriLaura CalabresiChiara PavanelloMaurizio AvernaAngelo Baldassare CefaluDavide NotoAdolfo Arturo PacificoGiovanni Mario PesMariko Harada-shibaEnzo ManzatoSabina ZambonAlberto ZambonAnja VogtMarco ScardapaneBarbara SjoukeRenato FellinMarcello Arcasubject
AdultMaleTime FactorsSettore MED/09 - Medicina InternaAdolescentatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysisHypercholesterolemiaretrospective analysiatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysis; Cardiology and Cardiovascular MedicineCohort StudiesYoung Adultautosomal recessive hypercholesterolemialipid-lowering therapiesfollow-upHumansLongitudinal StudiesChildlipid-lowering therapiesAgedRetrospective Studieslipid-lowering therapieatherosclerotic cardiovascular diseaseCholesterol LDLMiddle Agedretrospective analysisTreatment OutcomeCardiovascular DiseasesChild PreschoolFemaleCardiology and Cardiovascular MedicineFollow-Up Studiesdescription
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 (similar to 69.6% from baseline), with a better response in patients taking lomitapide (+/- 88.3%). Overall, 23.1% of ARH patients reached LDL-C of = 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. (c) 2018 by the American College of Cardiology Foundation
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-07-07 |