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Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.

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.

journal_name

J Am Coll Cardiol

journal_title

Journal of the American College of Cardiology

authors

D'Erasmo L,Minicocci I,Nicolucci A,Pintus P,Roeters Van Lennep JE,Masana L,Mata P,Sánchez-Hernández RM,Prieto-Matos P,Real JT,Ascaso JF,Lafuente EE,Pocovi M,Fuentes FJ,Muntoni S,Bertolini S,Sirtori C,Calabresi L,Pavan

doi

10.1016/j.jacc.2017.11.028

subject

Has Abstract

pub_date

2018-01-23 00:00:00

pages

279-288

issue

eissn

0735-1097

issn

1558-3597

pii

S0735-1097(17)41682-2

journal_volume

pub_type

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Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.