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Title: Autosomal recessive hypercholesterolemia in Spain
Authors: Sánchez Hernández, Rosa María 
Prieto-Matos, P.
Civeira, Fernando
Esteve Lafuente, E.
Frías Vargas, M.
Real, José T.
Goñi Goicoechea, F.
Fuentes, F. J.
Pocovi, M.
Boronat, Mauro 
Wägner, Ana María 
Masana, L.
UNESCO Clasification: 32 Ciencias médicas
3205 Medicina interna
320502 Endocrinología
Keywords: Autosomal recessive hypercholesterolemia
Familial hypercholesterolemia
Issue Date: 2018
Journal: Atherosclerosis 
Abstract: Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel mutation: c.[863C > T];p.[Ser288Leu] . High genetic heterogeneity was found in this cohort. True homozygous subjects for LDLRAP1 have more severe phenotypes than the compound heterozygous patient, but similar to patients with homozygous familial hypercholesterolemia (HoFH). Cardiovascular disease was present in 14% of the ARH patients. LDL-C under treatment was above 185 mg/dl and the response to PCSK9 inhibitors was heterogeneous. Finally, the estimated prevalence in Spain is very low, with just 1 case per 6.5 million people. Conclusions ARH is a very rare disease in Spain, showing high genetic heterogeneity, similarly high LDL-C concentrations, but lower incidence of ASCVD than HoFH.
ISSN: 0021-9150
DOI: 10.1016/j.atherosclerosis.2017.12.006
Source: Atherosclerosis[ISSN 0021-9150],v. 269, p. 1-5
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