Publications

From SAFEHEART

• Kindt I, Mata P, Knowles JW. The role of registries and genetic databases in familial hypercholesterolemia. Curr Opin Lipidol. 2017 Feb 6. doi: 10.1097/MOL.0000000000000398.
• Croyal M, Fall F, Krempf M, Thédrez A, Ouguerram K, Ferchaud-Roucher V, Aguesse A, Billon-Crossouard S, Mata P, Alonso R, Lambert G, Nobécourt E. Plasma PCSK9 measurement by liquid chromatography-Tandem mass spectrometry and comparison with conventional ELISA. J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Feb 15;1044-1045:24-29. doi: 10.1016/j.jchromb.2016.12.040.
• Saltijeral A, Pérez de Isla L, Alonso R, Muñiz O, Díaz-Díaz JL, Fuentes F, Mata N, de Andrés R, Díaz-Soto G, Pastor J, Pinilla JM, Zambón D, Pinto X, Badimón L, Mata P; SAFEHEART Investigators. Attainment of LDL Cholesterol Treatment Goals in Children and Adolescents With Familial Hypercholesterolemia. The SAFEHEART Follow-up Registry. Rev Esp Cardiol (Engl Ed). 2016 Nov 29. pii: S1885-5857(16)30330-9. doi: 10.1016/j.rec.2016.10.010.
• Pérez de Isla L, Saltijeral Cerezo A, Mata P. Letter by Pérez de Isla et al Regarding Article, “Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)”. Circulation. 2016 Nov 1;134(18):e393-e394.
• Escate R, Padro T, Borrell-Pages M, Suades R, Aledo R, Mata P, Badimon L. Macrophages of genetically characterized familial hypercholesterolaemia patients show up-regulation of LDL-receptor-related proteins. J Cell Mol Med. 2016 Sep 29. doi: 10.1111/jcmm.12993.
• Alonso R, Mata P, Muñiz O, Fuentes-Jimenez F, Díaz JL, Zambón D, Tomás M, Martin C, Moyon T, Croyal M, Thedrez A, Lambert G. PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia. Atherosclerosis. 2016 Nov;254:249-253. doi: 10.1016/j.atherosclerosis.2016.08.038.
• Alonso R, Díaz-Díaz JL, Arrieta F, Fuentes-Jiménez F, de Andrés R, Saenz P, Ariceta G, Vidal-Pardo JI, Almagro F, Argueso R, Prieto-Matos P, Miramontes JP, Pintó X, Rodríguez-Urrego J, Pérez de Isla L, Mata P; Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients:Insights from SAFEHEART registry. J Clin Lipidol 2016; 10:953-961. doi: 10.1016/j.jacl.2016.04.006 
• Pérez de Isla L, Alonso R, Mata N, Saltigeral A, Muñiz O, Rubio-Marin P, Díaz-Díaz JL, Fuentes F, de Andrés R, Zambón D, Galiana J, Piedecausa M, Aguado R, Mosquera D, Vidal JI, Ruiz E, Manjón L, Mauri M, Padró T, Miramontes JP, Mata P; SAFEHEART Investigators. Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia. Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study). Arterioscler Thromb Vasc Biol. 2016;36:2004-2010. doi: 10.1161/ATVBAHA.116.307514
• Pérez de Isla L, Alonso R, Watts GF, Mata N, Saltigeral A, Muñiz O, Fuentes F, Díaz-Díaz JL, de Andres R, Zambón D, Rubio-Marin P, Barba-Romero MA, Saenz P, Sánchez JF, Martínez-Faedo C, Miramontes-González JP, Badimón L, Mata P; SAFEHEART Investigators. Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up. J Am Coll Cardiol 2016;67:1278-85. doi: 10.1016/j.jacc.2016.01.008
• Fuentes F, Alcalá-Díaz JF, Watts GF, Mata P. Diabetes, statins and FH. Int J Cardiol. 2016 Jan 15;203:575. doi: 10.1016/j.ijcard.2015.10.235
• Wong B, Villa G, Kutikova L, Kruse G, Ray KK, Mata P, Bruckert E. The Magnitude of Increased Cardiovascular (Cv) Risk Associated with Familial Hypercholesterolemia (Fh) for use in Economic Analyses. Value Health. 2015 Nov;18(7):A340. doi: 10.1016/j.jval.2015.09.140
• Fuentes F, Alcalá-Díaz JF, Watts GF, Mata P. Diabetes, statins and FH. Int J Cardiol. 2016 Jan 15;203:575. doi: 10.1016/j.ijcard.2015.10.235
• Fuentes F, Alcala-Diaz JF, Watts GF, Alonso R, Muñiz O, Díaz-Díaz JL, Mata N, Sanchez Muñoz-Torrero JF, Brea Á, Galiana J, Figueras R, Aguado R, Piedecausa M, Cepeda JM, Vidal JI, Rodríguez-Cantalejo F, López-Miranda J, Mata P; SAFEHEART Investigators. Statins do not increase the risk of developing type 2 diabetes in familial hypercholesterolemia: The SAFEHEART study. Int J Cardiol. 2015 Aug 5;201:79-84. doi: 10.1016/j.ijcard.2015.07.107
• Suades R, Padró T, Alonso R, Mata P, Badimon L. High levels of TSP1+/CD142+ platelet-derived microparticles characterise young patients with high cardiovascular risk and subclinical atherosclerosis. Thromb Haemost. 2015 Jul 16;114(5)
• Ascaso JF, Mata P, Arbona C, Civeira F, Valdivielso P, Masana L. Homozygous familial hypercholesterolaemia: Spanish adaptation of the position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Consensus document of the Spanish Society of Arteriosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF). Clin Investig Arterioscler. 2015 Mar-Apr;27(2):80-96. doi: 10.1016/j.arteri.2015.01.002. Epub 2015 Mar 8.
• Alonso R, Mata P, Alonso Y Gregorio M, de Andrés R. Homozygous familial hypercholesterolemia. First case in Spain treated with lomitapide, an inhibitor of the synthesis of lipoproteins with apolipoprotein B. Med Clin (Barc). 2015 Sep 7;145(5):229-30. doi: 10.1016/j.medcli.2014.11.002. Epub 2014 Dec 24
• Baum SJ, Sijbrands EJ, Mata P, Watts GF. The doctor’s dilemma: challenges in the diagnosis and care of homozygous familial hypercholesterolemia. J Clin Lipidol. 2014 Nov-Dec;8(6):542-9. doi: 10.1016/j.jacl.2014.09.005. Epub 2014 Sep 19
• Mata P, Alonso R, Pérez-Jiménez F. Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine. Rev Esp Cardiol. 2014 May 20. doi: 10.1016/j.recesp.2014.01.016.
• Cubedo J, Padró T, Cinca J, Mata P, Alonso R, Badimon L. Retinol-binding protein 4 levels and susceptibility to ischaemic events in men. Eur J Clin Invest. 2014;44:266-75.
• Mata P, Alonso R, Ruiz A, Gonzalez-Juanatey JR, Badimón L, Díaz-Díaz JL, Muñoz MT, Muñiz O, Galve E, Irigoyen L, Fuentes-Jiménez F, Dalmau J, Pérez-Jiménez F. Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document.  J Aten Primaria. 2014 Apr 3. doi: 10.1016/j.aprim.2013.12.015.
• Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART investigators. Lipoprotein(a) levels in Familial Hipercholesterolaemia: an important predictor for cardiovascular disease independent of the type of LDL-receptor mutation. J Am Coll Cardiol. 2014; 63:1982-9.
• Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014;171:309-25
• Suades R, Padró T, Alonso R, López-Miranda J, Mata P, Badimon L. Circulating CD45+/CD3+ lymphocyte-derived microparticles map lipid-rich atherosclerotic plaques in familial hypercholesterolaemia patients. Thromb Haemost. 2014;111:111-21.
• Suades R, Padró T, Alonso R, Mata P, Badimón L. Lipid-lowering therapy with statins reduces microparticles shedding from endothelium, platelets and inflammatory cells indicating protection against cell activation. Thromb Haemost 2013;110:366-77
• Alonso R, Mata P, Zambón D, Mata N, Fuentes Jiménez F. Early diagnosis and treatment of Familial Hypercholesterolemia: Can we improve patient outcomes. Expert Rev Cardiovasc Ther 2013; 11:327-42.
• Nelva Mata, Rodrigo Alonso, Jose R Banegas, Daniel Zambón, Ángel Brea, Pedro Mata^. Quality of life in a cohort of Familial Hypercholesterolemia patients from the south of Europe. Eur J Public Health . 2012 doi:10.1093/eurpub/cks174
• Aledo R, Alonso R, Mata P, Llorente-Cortés V, Padró T, badimón L. LRP1 Gene polymorphisms are associated with premature risk of Cardiovascular Disease in patients with Familial Hypercholesterolemia. Rev Esp Cardiol 2012;65:807-812.
• Caballero P, Alonso R, Rosado P, Mata N, Fernández-Frieras L, Jiménez-Borreguero J, Badimón L, Mata P. Detection of subclinical atherosclerosis in familial hypercholesterolemia using non-invasive imaging modalities. Atherosclerosis 2012; 222:468-72
• Cubedo J, Padró T, Alonso R, Cinca J, Mata P, Badimón L.Differential proteomic distribution of TTR (pre-albumin) forms in serum and HDL of patients with high cardiovascular risk. Atherosclerosis 2012; 222:263-9.
• Mata M, Alonso R, Badimon L, Padró T, Fuentes F, Muñiz O, Perez-Jiménez F, López-Mirada J, Díaz JL, Vidal JI, Barba A, Piedecausa M, Sanchez JF, Irigoyen L, Guallar E, Ordovas JM, Mata P. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis 2011;10(1):94.
• Vazquez C, Alonso R, Garriga M, de Cos A, de la Cruz JJ, Fuentes-Jiménez F, Salas- Salvadó J, Mata P. Validation of a food frequency questionnaire in Spanish patients with familial Hypercholesterolaemia. Nutr Metab Cardiovasc Dis 2012; 22: 836-42.
• Criado-Garcia J, Fuentes F, Cruz-Teno C, Garcia-Rios A, Jimenez-Morales A, Delgado-Lista J, Mata P, Alonso R, Lopez-Miranda J, Perez-Jimenez F. R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study. Lipids Health Dis. 2011;10:50
• Garcia-Rios A, Perez-Martinez P, Mata P, Fuentes F, Lopez-Miranda J, Alonso R, Caballero J, Mata N, Perez-Jimenez F, Ordovas JM. Polymorphism at the TRIB1 gene modulates plasma lipid levels: Insight from the spanish familial hypercholesterolemia cohort study. Nutr Metab Cardiovasc Dis.  2011;21:957-63
• Zambón D, Quintana M, Mata P, Alonso R, Benavent J, Cruz-Sánchez F, Gich J, Pocoví M, Civeira F, Capurro S, Bachman D, Sambamurti K, Nicholas J, Pappolla MA. Higher Incidence of Mild Cognitive Impairment in Familial Hypercholesterolemia. Am J Med 2010; 123: 267-274.
• Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, Rodriguez F, Garcia-Olid A, Ruano J, Ordovas JM, Perez-Jimenez F. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hipercolesterolemia.Atherosclerosis 2010;210:486-92.
• Alonso R, Mata N, BadimónL, Pérez-Jiménez F, Mata P. Prognostic factors of cardiovascular disease mortality and morbidity in a cohort of families with genetic diagnoses of familial Hypercholesterolemia. Nat Rev 2009;6:23-7.

From the Spanish Familial Hypercholesterolemia Registry

• Alonso R, Defesche J, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P. Genetic Diagnosis of Familial Hypercholesterolemia using a DNA-array based platform. Clin Biochem 2009;42:899-903
• Oliva J, López-Bastidas J, Gutierrez S, Mata P, Alonso R. Análisis de coste-efectividad de un programa de cribado genético en familiares directos de pacientes con hipercolesterolemia familiar en España. Rev Esp Cardiol 2009;62: 57-65.
• Alonso R, Fernández de Bobadilla J, Méndez I, Lazaro P, Mata N; Mata P. Coste-efectividad del manejo de la Hipercolesterolemia Familiar con estrategias de tratamiento preventivo basadas en atorvastatina. Rev Esp Cardiol 2008; 61: 382-93
• Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, Galiana J, Figueras R, Díaz JL, Gómez-Enterría P, Mauri M, Piedecausa M, Irigoyen L, Aguado R, Mata P; Spanish Familial Hypercholesterolemia Group. Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008; 200:315-22
• Junyent M, Gilabert R, Zambón D, Pocovi M, Mallen M, Cofan M, Nuñez I, Civeira F, Tejedro D, Ros E. Femoral Atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. ArteriosclerThrombVasc Biol. 2008;28:580-6
• Tejedor D,Castillo S, Mozas P, Jiménez E, Lopez M, Tejedor MT, Artieda M, Alonso R, Mata P, Siomon L, Martinez A, Pocovi M. Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia. Clin Chem. 2006;52:1971-2
• Junyent M, Cofán M, Núñez I, Gilabert R, Zambón D, Ros E. Influence of HDL cholesterol on preclinical carotid atherosclerosis in familial hypercholesterolemia. ArteriosclerThrombVasc Biol. 2006;26:1107-13
• Merino-Ibarra E ; Castillo S, Mozas P, Cenarro A, Martorell E, Diaz JL, Suarez Tembra M, Alonso R, Civeira F, Mata P, Pocovi M. Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia.Hum Biol. 2005;77:663-73
• Civeira F, Castillo S, Alonso R, Merino-Ibarra E, Cenarro A, Artied M, Martin-Fuentes P, Ros E, Pocovi M, Mata P. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005;25:1960-5
• Tejedor D, Castillo S, Mozas P,Jiménez E, López M, Tejedor MT, Artieda M, Alonso R, Mata P, Simón L, Martínez A, Pocovi M; Spanish FH Group.. Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia Clin Chem. 2005; 51:1137-44
• Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocovi M. Molecular characterization of familial hpercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mut 2004 (#735 online).
• International panel on management of familial hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55-68.
• Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemai in Spain: case-finding program, clinical and genetic aspects. Sem Vasc Med 2004;1:67-74
• Mata P, Alonso R, Badimon J. Benefits and Risks of simvastatin in patients with familial hypercholesterolemia. Drug Saf 2003; 26:769-786.
• Garcia-Alvarez I, Castill S, Mozas P, Tejedor D, Reyes G, Artieda M ,et al. Diferencias en la presentación clínica en sujetos con fenotipo de hipercolesterolemia familiar por defectos en el receptor LDL y por defectos de la apo B-100. Rev Esp Cardiol 2003;56:769-74
• Mozas P, Castillo S, Reyes G, Tejedor D, Civeira F, García-Alvarez I, Puzo J, Cenarro A, Alonso R, Mata P and M. Pocoví. Apo E genotype is not associated with cardiovascular disease in heterozygous subjects with Familial Hypercholesterolemia. Am Heart J, 2003;145:999-1005
• Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasunción MA, Civeira F, Alonso R, Mata P, Pocovi M. A double mutant (2393del9+N543H) allele in the LDL-r gene in patients witj heterozygous, homozygous and compound heterozygous familial hypercholesterolemia: Effect on plasma cholesterol levels and coronary heart disease. Hum Mut 2002 (#558 online)
• Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, Ros E, Pocovi M, Mata P on behalf of the Spanish FH Study group. The apolipoprotein B R3500 gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2002;165:137-144.
• Alonso R, Castillo , Civeira F, Puzo J, de la Cruz J, Pocovi M, Mata P. Hipercolesterolemia familiar heterocigota en España. Estudio descriptivo de 819 casos no relacionados. Med Clin (Barc), 2002;118:487-92
• Mata P, Alonso R, Castillo S, Pocovi M. MEDPED and the Spanish familial hypercholesterolemia foundation. Atherosclerosis 2002;2(suppl):9-11.