000088198 001__ 88198
000088198 005__ 20200716101431.0
000088198 0247_ $$2doi$$a10.1016/j.atherosclerosis.2019.03.013
000088198 0248_ $$2sideral$$a111437
000088198 037__ $$aART-2019-111437
000088198 041__ $$aeng
000088198 100__ $$aCebolla, J.J.$$uUniversidad de Zaragoza
000088198 245__ $$aEvaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study
000088198 260__ $$c2019
000088198 5060_ $$aAccess copy available to the general public$$fUnrestricted
000088198 5203_ $$aBackground and aims: Lysosomal acid lipase deficiency (LALD) leads to the accumulation of cholesteryl esters and/or triglycerides (TG) in lysosomes due to the lack of the enzyme codified by the LIPA gene. The most common symptoms are dyslipidaemia and hypertransaminasemia, together with manifestations common to other lysosomal storage disorders (LSDs), including visceromegalies and elevated plasma biomarkers. Alteration of the lipid-liver profile (LLP) has been widely applied as a criterion for LALD screening, but the usefulness of biomarkers has not yet been explored. Our purpose was to explore the utility of plasma chitotriosidase activity (ChT) and CCL18/PARC concentration in addition to LLP to identify LALD patients in an observational retrospective study of two different sample collections.
Methods: Biological samples refining: Collection 1 (primary hypercholesterolemia suspected) included unrelated individuals with hyperlipidaemia and without LDLR, APOB and PCSK9 gene mutations (Set 1), and Collection 2 (LSD suspected) included individuals without definitive LSD diagnosis (Set 2). We assessed plasma LLP (total cholesterol and its fractions, TG concentration and transaminases activities), as well as plasma ChT and CCL18/PARC. All subjects with anomalous LLP and/or biomarker levels were LIPA sequenced.
Results: Twenty-four subjects showed altered LLP and/or biomarkers. We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant.
Conclusions: The measurement of plasma ChT and CCL18/PARC combined with LLP will be a useful approach to identifying LALD patients in retrospective LALD patient studies.
000088198 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000088198 590__ $$a3.919$$b2019
000088198 592__ $$a1.515$$b2019
000088198 591__ $$aPERIPHERAL VASCULAR DISEASE$$b16 / 65 = 0.246$$c2019$$dQ1$$eT1
000088198 593__ $$aCardiology and Cardiovascular Medicine$$c2019$$dQ1
000088198 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b42 / 138 = 0.304$$c2019$$dQ2$$eT1
000088198 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000088198 700__ $$0(orcid)0000-0003-3392-7200$$aIrún, P.
000088198 700__ $$0(orcid)0000-0001-5956-4319$$aMozas, P.$$uUniversidad de Zaragoza
000088198 700__ $$aGiraldo, P.
000088198 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000088198 773__ $$g285 (2019), 49-54$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150
000088198 8564_ $$s222439$$uhttps://zaguan.unizar.es/record/88198/files/texto_completo.pdf$$yPostprint
000088198 8564_ $$s187734$$uhttps://zaguan.unizar.es/record/88198/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000088198 909CO $$ooai:zaguan.unizar.es:88198$$particulos$$pdriver
000088198 951__ $$a2020-07-16-08:50:01
000088198 980__ $$aARTICLE