2026-08-25T21:55:49Zhttps://gredos.usal.es/oai/request

oai:gredos.usal.es:10366/1556632025-04-30T19:26:58Zcom_10366_128023com_10366_3947com_10366_3946com_10366_3823col_10366_128025

Sánchez-Hernández, Rosa María Prieto Matos, Pablo Civeira, Fernando Lafuente, Eduardo Esteve Vargas, Manuel Frías Real, José T. Goicoechea, Fernando Goñi Fuentes, Francisco J. Pocovi, Miguel Boronat, Mauro Wägner, Ana María Masana, Luis 2024-02-10T15:59:42Z 2024-02-10T15:59:42Z 2018 Sánchez-Hernández RM, Prieto-Matos P, Civeira F, Lafuente EE, Vargas MF, Real JT, Goicoechea FG, Fuentes FJ, Pocovi M, Boronat M, Wägner AM, Masana L. Autosomal recessive hypercholesterolemia in Spain. Atherosclerosis. 2018 Feb;269:1-5 0021-9150 http://hdl.handle.net/10366/155663 10.1016/j.atherosclerosis.2017.12.006 [EN]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 LDLC concentrations, but lower incidence of ASCVD than HoFH. eng Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess Familial hypercholesterolemia Autosomal recessive hypercholesterolemia LDLRAP1 Autosomal recessive hypercholesterolemia in Spain info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://doi.org/10.1016/j.atherosclerosis.2017.12.006 https://doi.org/10.1016/j.atherosclerosis.2017.12.006 Atherosclerosis 269 1 5