Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

F Civeira… - Atherosclerosis, 2004 - Elsevier
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism
characterized by very high plasma concentrations of low density lipoprotein cholesterol …

Barriers to early diagnosis and treatment of familial hypercholesterolemia: current perspectives on improving patient care

R Alonso, L Perez de Isla… - Vascular health and …, 2020 - Taylor & Francis
Familial hypercholesterolemia (FH) is a frequent disorder associated with premature
atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and …

Lipoprotein (a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation

R Alonso, E Andres, N Mata, F Fuentes-Jiménez… - Journal of the American …, 2014 - jacc.org
Objectives: The aim of this study was to determine the relationship between lipoprotein
(a)[Lp (a)] and cardiovascular disease (CVD) in a large cohort of patients with heterozygous …

Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation

F Civeira, S Castillo, R Alonso… - … , and vascular biology, 2005 - Am Heart Assoc
Objective—To investigate the significance of tendon xanthomas (TX) in heterozygous
subjects with familial hypercholesterolemia (hFH). Methods and Results—951 men and …

Diagnóstico y tratamiento de la hipercolesterolemia familiar en España: documento de consenso

P Mata, R Alonso, A Ruiz… - … -Medicina de Familia, 2015 - Elsevier
La hipercolesterolemia familiar (HF) es un trastorno genético frecuente que se manifiesta
desde el nacimiento y que causa un aumento en los niveles plasmáticos de colesterol-LDL …

Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting

F Civeira, E Jarauta, A Cenarro, AL García-Otín… - Journal of the American …, 2008 - jacc.org
Objectives: The purpose of this study was to determine the frequency of mutations in the low-
density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes in consecutive …

The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias

M Junyent, R Gilabert, D Zambón, I Núñez… - … , and vascular biology, 2005 - Am Heart Assoc
Objective—Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH),
may be clinically undetectable. We assessed the usefulness of AT sonography in the …

[HTML][HTML] Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL

M Artieda, A Cenarro, C Junquera, P Lasierra… - FEBS letters, 2005 - Elsevier
Tendon xanthomas (TX) are pathognomonic lipid deposits commonly found in familial
hypercholesterolemia (FH) patients. The aim of this study was to determine whether …

Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia

J Oliva, J López-Bastida, SG Moreno, P Mata… - Revista Española de …, 2009 - Elsevier
INTRODUCTION AND OBJECTIVES: The aim was to assess the cost-effectiveness of a
genetic screening program for first-degree relatives of patients with familial …

Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document

P Mata, R Alonso, A Ruiz, JR Gonzalez-Juanatey… - Atención …, 2014 - europepmc.org
La hipercolesterolemia familiar (HF) es un trastorno genético frecuente que se manifiesta
desde el nacimiento y que causa un aumento en los niveles plasmáticos de colesterol-LDL …