title: Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia: Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).
abstract: Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)-related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arterial and cerebrovascular disease. Our aim was to analyze ASCVD prevalence and characteristics in different arterial territories in a large FH population, to compare them with an unaffected control population and to determine which factors are associated to ASCVD.
  
  
  
  SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is an ongoing registry of molecularly defined patients with heterozygous FH in Spain. ASCVD in the different arterial territories was analyzed, as well as individual characteristics, genetic variables, and lipid-lowering therapies. The study recruited 4132 subjects (3745 ≥18 years); 2,752 of those enrolled were molecularly diagnosed FH cases. Median age was 44.0 years (45.9% men) and 40 years (46.6% men) in FH patients and unaffected relatives (P<0.001). ASCVD was present in 358 (13.0%) and 47 (4.7%) FH patients and unaffected relatives, respectively (P<0.001). History of premature ASCVD was more prevalent in FH patients (9.4% and 2.4% in FH patients and unaffected relatives, respectively; P<0.001). Coronary artery-related manifestations and peripheral artery disease were more prevalent in FH patients than in controls, but no significant differences were found for cerebrovascular events. Age, body mass index, type 2 diabetes mellitus, high blood pressure, previous use of tobacco, and lipoprotein(a) >50 mg/dL were independently associated with ASCVD.
  
  
  
  The prevalence of ASCVD is higher, and the involvement of the arterial territories is different in FH patients when compared with their unaffected relatives. Age, male sex, increased body mass index, hypertension, type 2 diabetes mellitus, smoking habit, and lipoprotein(a) >50 mg/dL were independently associated to ASCVD.
  
  
  
  URL: https://www.clinicaltrials.gov. Unique identifier: NCT02693548.
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.). pmata@colesterolfamiliar.org leopisla@hotmail.com.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Pérez de Isla
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Adriana
authors.initials: A
authors.lastname: Saltijeral
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Ovidio
authors.initials: O
authors.lastname: Muñiz
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Patricia
authors.initials: P
authors.lastname: Rubio-Marin
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: José L
authors.initials: JL
authors.lastname: Diaz-Diaz
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Raimundo
authors.initials: R
authors.lastname: de Andrés
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Daniel
authors.initials: D
authors.lastname: Zambón
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Jesús
authors.initials: J
authors.lastname: Galiana
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Mar
authors.initials: M
authors.lastname: Piedecausa
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Rocio
authors.initials: R
authors.lastname: Aguado
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Daniel
authors.initials: D
authors.lastname: Mosquera
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: José I
authors.initials: JI
authors.lastname: Vidal
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Enrique
authors.initials: E
authors.lastname: Ruiz
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Laura
authors.initials: L
authors.lastname: Manjón
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Marta
authors.initials: M
authors.lastname: Mauri
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: Teresa
authors.initials: T
authors.lastname: Padró
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.).
authors.forename: José P
authors.initials: JP
authors.lastname: Miramontes
authors.affiliation: From the Cardiology Department, Hospital Clínico San Carlos, IDISSC, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R.A., N.M., A.S., P.M.); Clínica las Condes, Santiago de Chile, Chile (R.A.); Department of Epidemiology, Madrid Health Authority, Spain (N.M.); Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain (A.S.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain (P.R.-M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain (F.F.); Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain (R.d.A.); Lipid Clinic, Endocrinology Service Hospital Clínic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Endocrinology, Hospital General de León, Spain (R.A.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (D.M.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (J.I.V.); Department of Endocrinology, Hospital Universitario de Burgos, Spain (E.R.); Department of Endocrinology, Hospital de Gijón, Asturias, Spain (L.M.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain (T.P.); and Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain (J.P.M.). pmata@colesterolfamiliar.org leopisla@hotmail.com.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D053299:Apolipoprotein B-100 / Q000235:genetics; D016022:Case-Control Studies; D015897:Comorbidity; D003327:Coronary Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation; D010375:Pedigree; D058729:Peripheral Arterial Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D011446:Prospective Studies; D011973:Receptors, LDL / Q000235:genetics; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D012737:Sex Factors; D012907:Smoking / Q000009:adverse effects / Q000453:epidemiology; D013030:Spain / Q000453:epidemiology; D020521:Stroke / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics
chemical_list: C569471:APOB protein, human; D053299:Apolipoprotein B-100; C573412:LDLR protein, human; D011973:Receptors, LDL
keywords: coronary disease; genetics; hypercholesterolemia; peripheral vascular diseases; stroke