Differential diagnosis of familial high density lipoprotein deficiency syndromes
Abstract
Monogenic high density lipoprotein (HDL) deficiency, because of defects in the genes of apolipoprotein A-I (apoA-I), adenosine triphosphate binding cassette transporter A1 (ABCA1) or lecithin:cholesterol acyltransferase (LCAT), can be assumed in patients with HDL cholesterol levels below the fifth percentile within a given population. As in a first step underlying diseases should be excluded. Patients with a virtual absence of HDL must undergo careful physical examination to unravel the clinical hallmarks of certain HDL deficiency syndromes. In addition, family studies should be initiated, to demonstrate the vertical transmission of the low HDL cholesterol phenotype. Definitive diagnosis requires specialized biochemical tests and the demonstration of a functionally-relevant mutation in one of the three discussed candidate genes. As yet no routinely used drug is able to increase HDL cholesterol levels in patients with familial low HDL cholesterol so that prevention of cardiovascular disease in these patients must be focused on the avoidance and treatment of additional risk factors.
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Approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT.
“According to the results from Danish and American population studies, approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT [28, 29].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [29]
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687 · see citing works
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108 · see citing works
High Density Lipoproteins and Arteriosclerosis
von Eckardstein, A., Nofer, J., & Assmann, G. (2001) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.21.1.13 · Cited by 696 · see citing works
Familial lipoprotein disorders in patients with premature coronary artery disease.
Genest, J. J., Martin-Munley, S., McNamara, J. R., Ordovás, J. M., Jenner, J. L., Myers, R. H., Silberman, S. R., Wilson, P. W., Salem, D. N., & Schaefer, E. J. (1992) · Circulation · doi:10.1161/01.cir.85.6.2025 · Cited by 598 · see citing works
Lecithin cholesterol acyltransferase
Jonas, A. M. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00153-0 · Cited by 475 · see citing works
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
Kuivenhoven, J. A., Pritchard, H., Hill, J. S., Frohlich, J., Assmann, G., & Kastelein, J. J. P. (1997) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)37433-2 · Cited by 364 · see citing works
Clee, S. M., Kastelein, J. J. P., van Dam, M., Marcil, M., Roomp, K., Zwarts, K. Y., Collins, J. A., Roelants, R. J., Tamasawa, N., Štulc, T., et al. (2000) · Journal of Clinical Investigation · doi:10.1172/jci10727 · Cited by 314 · see citing works
Wang, N., & Tall, A. R. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000075912.83860.26 · Cited by 259 · see citing works
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population
Frikke‐Schmidt, R., Nordestgaard, B. G., Jensen, G. B., & Tybjærg‐Hansen, A. (2004) · Journal of Clinical Investigation · doi:10.1172/jci20361 · Cited by 249 · see citing works
Singaraja, R. R., Brunham, L. R., Visscher, H., Kastelein, J. J. P., & Hayden, M. R. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000078520.89539.77 · Cited by 245 · see citing works
Gotto, A. M., & Brinton, E. A. (2004) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2003.08.061 · Cited by 228 · see citing works
Lecithin: cholesterol acyltransferase deficiency and fish-eye disease
Assmann, G., von Eckardstein, A., & Funke, H. (1991) · Current Opinion in Lipidology · doi:10.1097/00041433-199104000-00009 · Cited by 191 · see citing works
The Effects of Altered Apolipoprotein A-I Structure on Plasma HDL Concentration
Sorci‐Thomas, M. G., & Thomas, M. J. (2002) · Trends in Cardiovascular Medicine · doi:10.1016/s1050-1738(01)00163-3 · Cited by 189 · see citing works
The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes
Calabresi, L., Pisciotta, L., Costantin, A., Frigerio, I., Eberini, I., Alessandrini, P., Arca, M., Bon, G. B., Boscutti, G., Busnach, G., et al. (2005) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000175751.30616.13 · Cited by 171 · see citing works
Genetics of Variation in HDL Cholesterol in Humans and Mice
Wang, X., & Paigen, B. J. (2005) · Circulation Research · doi:10.1161/01.res.0000151332.39871.13 · Cited by 139 · see citing works
Choi, H. Y., Karten, B., Chan, T., Vance, J. E., Greer, W. L., Heidenreich, R. A., Garver, W. S., & Francis, G. A. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m304553200 · Cited by 138 · see citing works
Lipid abnormalities in children with types A and B Niemann Pick disease
McGovern, M. M., Pohl-Worgall, T., Deckelbaum, R. J., Simpson, W. L., Mendelson, D., Desnick, R. J., Schuchman, E. H., & Wasserstein, M. (2004) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.02.048 · Cited by 136 · see citing works
Hovingh, G. K., Brownlie, A., Bisoendial, R. J., Dubé, M., Levels, J. H. M., Petersen, W., Dullaart, R. P. F., Stroes, E. S. G., Zwinderman, A. H., de Groot, E., et al. (2004) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2004.06.070 · Cited by 129 · see citing works
Study of ABCA1 function in transgenic mice.
Joyce, C. W., Freeman, L., Brewer, H., & Santamarina-Fojo, S. (2003) · Arteriosclerosis, Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000055194.85073.ff · Cited by 118 · see citing works
Inherited disorders of HDL metabolism and atherosclerosis
Hovingh, G. K., de Groot, E., van der Steeg, W. A., Boekholdt, S. M., Hutten, B. A., Kuivenhoven, J. A., & Kastelein, J. J. P. (2005) · Current Opinion in Lipidology · doi:10.1097/01.mol.0000162318.47172.ef · Cited by 116 · see citing works
von Eckardstein, A., Funke, H., Walter, M., Altland, K., Benninghoven, A., & Assmann, G. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)38931-8 · Cited by 105 · see citing works
Trégouët, D., Ricard, S., Nicaud, V., Reguigne-Arnould, I., Soubigou, S., Rosier, M., Duverger, N., Poirier, O., Macé, S., Kee, F., et al. (2004) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000121573.29550.1a · Cited by 102 · see citing works
Knoblauch, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh119 · Cited by 101 · see citing works
Apolipoprotein A-IMilano: current perspectives
Chiesa, G., & Sirtori, C. R. (2003) · Current Opinion in Lipidology · doi:10.1097/00041433-200304000-00007 · Cited by 101 · see citing works
Conformational Switching and Fibrillogenesis in the Amyloidogenic Fragment of Apolipoprotein A-I
Andreola, A., Bellotti, V., Giorgetti, S., Mangione, P. P., Obici, L. P., Stoppini, M., Torres, J., Monzani, E., Merlini, G., & Sunde, M. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m204801200 · Cited by 93 · see citing works
Familial analphalipoproteinemia : Tangier disease
Assmann, G. (2001) · Medical Entomology and Zoology · Cited by 92 · see citing works
Assmann, G., von Eckardstein, A., & Funke, H. (1993) · PubMed · Cited by 91 · see citing works
Multicenter evaluation of a homogeneous assay for HDL-cholesterol without sample pretreatment
Nauck, M. A., März, W., Jarausch, J., Cobbaert, C. M., Sägers, A., Bernard, D., Delanghe, J., Honauer, G., Lehmann, P., Östrich, E., et al. (1997) · Clinical Chemistry · doi:10.1093/clinchem/43.9.1622 · Cited by 90 · see citing works
Ayyobi, A. F., McGladdery, S. H., Chan, S., Mancini, G. B. J., Hill, J. S., & Frohlich, J. J. (2004) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2004.07.018 · Cited by 83 · see citing works
Obici, L. P., Palladini, G. O., Giorgetti, S., Bellotti, V., Gregorini, G. A., Arbustini, E., Verga, L., Marciano, S., Donadei, S., Perfetti, V., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.03.003 · Cited by 82 · see citing works
High Density Lipoproteins in Health and in Disease
Genest, J. J., Marcil, M., Denis, M., & Yu, L. (1999) · Journal of Investigative Medicine · doi:10.1177/108155899904700106 · Cited by 80 · see citing works
Apolipoprotein A-I(Milano): current perspectives.
Chiesa, G., & Sirtori, C. R. (2003) · Current Opinion in Lipidology · doi:10.1097/01.mol.0000064048.08840.b4 · Cited by 78 · see citing works
Bruckert, É., von Eckardstein, A., Funke, H., Beucler, I., Wiebusch, H., Turpin, G., & Assmann, G. (1997) · Atherosclerosis · doi:10.1016/s0021-9150(96)05982-5 · Cited by 62 · see citing works
Miccoli, R., Bertolotto, A., Navalesi, R., Odoguardi, L., Boni, A., Weßling, J., Funke, H., Wiebusch, H., von Eckardstein, A., & Assmann, G. (1996) · Circulation · doi:10.1161/01.cir.94.7.1622 · Cited by 59 · see citing works
Apoa1 related amyloidosis: a case report and literature review
JOY, T. R., Wang, J., Hahn, A. F., & Hegele, R. A. (2003) · Clinical Biochemistry · doi:10.1016/s0009-9120(03)00110-3 · Cited by 54 · see citing works
β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia
Pocovı́, M., Cenarro, A., Civeira, F., Torralba, M. A., Pérez‐Calvo, J. I., Mozas, P., Giraldo, P., Giralt, M., Myers, R. H., Cupples, L. A., et al. (1998) · The Lancet · doi:10.1016/s0140-6736(97)09490-7 · Cited by 52 · see citing works
Apolipoprotein A-I Zavalla (Leu 159 →Pro)
Miller, M. J., Aiello, D. P., Pritchard, H., Friel, G., & Zeller, K. I. (1998) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.18.8.1242 · Cited by 51 · see citing works
Römling, R., von Eckardstein, A., Funke, H., Motti, C., Fragiacomo, G. C., Noseda, G., & Assmann, G. (1994) · Arteriosclerosis and Thrombosis A Journal of Vascular Biology · doi:10.1161/01.atv.14.12.1915 · Cited by 50 · see citing works
Diagnosis of hereditary neuropathies in adult patients
Pareyson, D. (2003) · Journal of Neurology · doi:10.1007/s00415-003-1030-3 · Cited by 48 · see citing works
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia
Hovingh, G. K., van Wijland, M. J. A., Brownlie, A., Bisoendial, R. J., Hayden, M. R., Kastelein, J. J. P., & Groen, A. K. (2003) · Journal of Lipid Research · doi:10.1194/jlr.m300080-jlr200 · Cited by 45 · see citing works
Screening for functional sequence variations and mutations in ABCA1
Probst, M. C. O. (2004) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2004.02.019 · Cited by 45 · see citing works
Zhu, X., Herzenberg, A. M., Eskandarian, M. R., Maguire, G. F., Scholey, J. W., Connelly, P. W., & Ng, D. S. (2004) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63386-x · Cited by 44 · see citing works
Kyriakou, T., Hodgkinson, C. P., Pontefract, D. E., Iyengar, S., Howell, W. M., Wong, Y.-K., Eriksson, P. O., & Ye, S. (2004) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000149379.72018.20 · Cited by 43 · see citing works
Costanza, M. C. (2005) · American Journal of Epidemiology · doi:10.1093/aje/kwi103 · Cited by 43 · see citing works
Ikewaki, K., Matsunaga, A., Han, H., Watanabe, H., Endo, A., Tohyama, J., Kuno, M., Mogi, J., Sugimoto, K., Tada, N., et al. (2004) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2003.09.024 · Cited by 42 · see citing works
Peelman, F., Vandekerckhove, J. S., & Rosseneu, M. (2000) · Current Opinion in Lipidology · doi:10.1097/00041433-200004000-00008 · Cited by 31 · see citing works
Kastelein, J. J. P., Pritchard, P. H., Erkelens, D. W., Kuivenhoven, J. A., Albers, J. J., & Frohlich, J. J. (1992) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.1992.tb00953.x · Cited by 22 · see citing works
Devroey, D., Vantomme, K., Betz, W., Vandevoorde, J., & Kartounian, J. (2004) · Cardiology · doi:10.1159/000077906 · Cited by 15 · see citing works
von Eckardstein, A., Huang, Y., Kastelein, J. J. P., Geisel, J., Real, J. T., Kuivenhoven, J. A., Miccoli, R., Noseda, G., & Assmann, G. (1998) · Atherosclerosis · doi:10.1016/s0021-9150(97)00280-3 · Cited by 15 · see citing works
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European guidelines on cardiovascular disease prevention in clinical practice: executive summary
Graham, I., Atar, D., Borch‐Johnsen, K., Boysen, G., Burell, G. K., Cífková, R., Dallongeville, J., Backer, G. D., Ebrahim, S. B. J., Gjelsvik, B., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm316 · Cited by 3,840 · see citing works
Graham (2007) · doi:10.1097/01.hjr.0000277983.23934.c9 · Cited by 1,647 · see citing works
European guidelines on cardiovascular disease prevention in clinical practice: Executive summary
Graham, I. M. (2007) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2007.08.024 · Cited by 715 · see citing works
Graham, I. D., Atar, D., Borch‐Johnsen, K., Boysen, G., Burell, G. K., Cífková, R., Dallongeville, J., Backer, G. D., Ebrahim, S. B. J., Gjelsvik, B., et al. (2007) · European Journal of Cardiovascular Prevention & Rehabilitation · doi:10.1097/01.hjr.0000277984.31558.c4 · Cited by 286 · see citing works
HDL cholesterol: reappraisal of its clinical relevance
März, W., Kleber, M. E., Scharnagl, H., Speer, T., Zewinger, S., Ritsch, A., Parhofer, K. G., von Eckardstein, A., Landmesser, U., & Laufs, U. (2017) · Clinical Research in Cardiology · doi:10.1007/s00392-017-1106-1 · Cited by 275 · see citing works
Genetic causes of high and low serum HDL-cholesterol
Weissglas‐Volkov, D., & Pajukanta, P. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r004739 · Cited by 219 · see citing works
Are hypertriglyceridemia and low HDL causal factors in the development of insulin resistance?
Li, N., Fu, J., Koonen, D. P. Y., Kuivenhoven, J. A., Snieder, H., & Hofker, M. H. (2014) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2013.12.013 · Cited by 177 · see citing works
Boes, E., Coassin, S., Kollerits, B., Heid, I. M., & Kronenberg, F. (2008) · Experimental Gerontology · doi:10.1016/j.exger.2008.11.003 · Cited by 121 · see citing works
Three-dimensional models of HDL apoA-I: implications for its assembly and function
Thomas, M. J., Bhat, S., & Sorci‐Thomas, M. G. (2008) · Journal of Lipid Research · doi:10.1194/jlr.r800010-jlr200 · Cited by 107 · see citing works
Guía europea de prevención cardiovascular en la práctica clínica: Adaptación española del CEIPC 2008
Lobos, J., Royo-Bordonada, M. A., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano, Á., et al. (2008) · Revista Española de Salud Pública · doi:10.1590/s1135-57272008000600002 · Cited by 94 · see citing works
Puntoni, M., Sbrana, F., Bigazzi, F., & Sampietro, T. (2012) · American Journal of Cardiovascular Drugs · doi:10.1007/bf03261839 · Cited by 95 · see citing works
Paré, G., Serre, D., Brisson, D., Anand, S. S., Montpetit, A., Tremblay, G., Engert, J. C., Hudson, T. J., & Gaudet, D. (2007) · The American Journal of Human Genetics · doi:10.1086/513286 · Cited by 86 · see citing works
Approach to the Patient with Extremely Low HDL-Cholesterol
Rader, D. J., & deGoma, E. M. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2185 · Cited by 79 · see citing works
Activation of lecithin: cholesterol acyltransferase by HDL ApoA-I central helices
Sorci‐Thomas, M. G., Bhat, S., & Thomas, M. J. (2009) · Clinical Lipidology · doi:10.2217/17584299.4.1.113 · Cited by 75 · see citing works
Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum
Rahalkar, A. R., & Hegele, R. A. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.10.007 · Cited by 74 · see citing works
Conformational Adaptation of Apolipoprotein A-I to Discretely Sized Phospholipid Complexes
Bhat, S., Sorci‐Thomas, M. G., Tuladhar, R., Samuel, M. P., & Thomas, M. J. (2007) · Biochemistry · doi:10.1021/bi700384t · Cited by 67 · see citing works
Tietjen, I., Hovingh, G. K., Singaraja, R., Radomski, C., McEwen, J., Chan, E., Mattice, M., Legendre, A., Kastelein, J. J. P., & Hayden, M. R. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.08.006 · Cited by 58 · see citing works
Human genetics of HDL: Insight into particle metabolism and function
Brunham, L. R., & Hayden, M. R. (2015) · Progress in Lipid Research · doi:10.1016/j.plipres.2015.01.001 · Cited by 52 · see citing works
Mendelian Disorders of High-Density Lipoprotein Metabolism
Oldoni, F., Sinke, R. J., & Kuivenhoven, J. A. (2014) · Circulation Research · doi:10.1161/circresaha.113.300634 · Cited by 48 · see citing works
Mezentsev, A., Bezsonov, E. E., Kashirskikh, D. A., Baig, M. S., Eid, A. H., & Orekhov, A. N. (2021) · Biomedicines · doi:10.3390/biomedicines9060600 · Cited by 48 · see citing works
Dysfunctional High-Density Lipoprotein: An Innovative Target for Proteomics and Lipidomics
Salazar, J. J., Olivar, L. C., Ramos, E., Chávez-Castillo, M., Rojas, J., & Bermúdez, V. (2015) · Cholesterol · doi:10.1155/2015/296417 · Cited by 48 · see citing works
Comprehensive assessment of metabolic syndrome among rural Bangladeshi women
Jesmin, S., Islam, M. R., Islam, A. M. S., Mia, M. S., Sultana, S. N., Zaedi, S., Yamaguchi, N., Iwashima, Y., Hiroe, M., & Watanabe, T. (2012) · BMC Public Health · doi:10.1186/1471-2458-12-49 · Cited by 42 · see citing works
Novel rare mutations and promoter haplotypes in ABCA1 contribute to low‐HDL‐C levels
Slatter, T., Jones, G. T., Williams, M., van Rij, A., & McCormick, S. P. A. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00940.x · Cited by 42 · see citing works
Rached, F. H., Santos, R. D., Camont, L., Miname, M. H., Lhomme, M., Dauteuille, C., Lecocq, S., Junior, C. V. S., Chapman, M. J., & Kontush, A. (2014) · Journal of Lipid Research · doi:10.1194/jlr.m051631 · Cited by 41 · see citing works
Daniil, G., Phedonos, A., Holleboom, A. G., Motazacker, M. M., Argyri, L., Kuivenhoven, J. A., & Chroni, A. (2011) · Clinica Chimica Acta · doi:10.1016/j.cca.2011.03.011 · Cited by 38 · see citing works
Lorenzi, I., von Eckardstein, A., Radosavljevic, S., & Rohrer, L. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2008.04.006 · Cited by 37 · see citing works
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
Fasano, T., Zanoni, P., Rabacchi, C., Pisciotta, L., Favari, E., Adorni, M. P., Deegan, P. B., Park, A. J., Hlaing, T., Feher, M. D., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.08.005 · Cited by 36 · see citing works
Guías de práctica clínica sobre prevención de la enfermedad cardiovascular: Versión resumida
Graham, I. D., Atar, D., Borch‐Johnsen, K., Boysen, G., Burell, G. K., Cífková, R., Dallongeville, J., Backer, G. D., Ebrahim, S. B. J., Gjelsvik, B., et al. (2008) · Revista Española de Cardiología · Cited by 34 · see citing works
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano‐Álvarez, A., et al. (2009) · PubMed · Cited by 33 · see citing works
von Eckardstein, A. (2010) · Expert Review of Cardiovascular Therapy · doi:10.1586/erc.10.6 · Cited by 30 · see citing works
Maranghi, M., Truglio, G., Gallo, A., Grieco, E., Verrienti, A., Montali, A., Gallo, P., Alesini, F., Arca, M., & Lucarelli, M. (2018) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2018.11.064 · Cited by 27 · see citing works
Severe HDL deficiency due to novel defects in the ABCA1 transporter
Pisciotta, L., Bocchi, L., Candini, C., Sallo, R., Zanotti, I., Fasano, T., Chakrapani, A., Bates, T., Bonardi, R., Cantàfora, A., et al. (2009) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2008.02019.x · Cited by 25 · see citing works
Wang, X., He, J., Guo, H., Mu, L., Hu, Y., Ma, J., Yan, Y., Ma, R., Li, S., Ding, Y., et al. (2017) · Lipids in Health and Disease · doi:10.1186/s12944-017-0581-8 · Cited by 25 · see citing works
Singaraja, R. R., Tietjen, I., Hovingh, G. K., Franchini, P. L., Radomski, C., Wong, K. K., vanHeek, M., Stylianou, I. M., Lin, L., Wang, L., et al. (2014) · Journal of Lipid Research · doi:10.1194/jlr.m048710 · Cited by 24 · see citing works
Severe acquired (secondary) high-density lipoprotein deficiency
Goldberg, R. B., & Mendez, A. J. (2007) · Journal of clinical lipidology · doi:10.1016/j.jacl.2007.02.003 · Cited by 24 · see citing works
Chroni, A., & Kardassis, D. (2018) · Current Medicinal Chemistry · doi:10.2174/0929867325666180313114950 · Cited by 22 · see citing works
Zakiev, E., Rached, F. H., Lhomme, M., Darabi, M., Ponnaiah, M., Becker, P. H., Thérond, P., Junior, C. V. S., Santos, R. D., Chapman, M. J., et al. (2019) · Journal of clinical lipidology · doi:10.1016/j.jacl.2019.02.004 · Cited by 20 · see citing works
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano‐Álvarez, A., et al. (2009) · PubMed · Cited by 20 · see citing works
Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. D. D., Ebrahim, S., Gjelsvik, B., et al. (2008) · Revista Española de Cardiología · doi:10.1157/13114961 · Cited by 16 · see citing works
Genetic Polymorphisms in the APOA1 Gene and their Relationship with Serum HDL Cholesterol Levels
Bandarian, F., Hedayati, M., DANESHPOUR, M. S., Naseri, M., & Azizi, F. (2013) · Lipids · doi:10.1007/s11745-013-3847-6 · Cited by 19 · see citing works
Current Status of Familial LCAT Deficiency in Japan
Kuroda, M., Bujo, H., Yokote, K., Murano, T., Yamaguchi, T., Ogura, M., Ikewaki, K., Koseki, M., Takeuchi, Y., Nakatsuka, A., et al. (2021) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.rv17051 · Cited by 19 · see citing works
Ishibashi, R., Takemoto, M., Tsurutani, Y., Kuroda, M., Ogawa, M., Wakabayashi, H., Uesugi, N., Nagata, M., Imai, N., Hattori, A., et al. (2018) · Journal of clinical lipidology · doi:10.1016/j.jacl.2018.05.002 · Cited by 18 · see citing works
High density lipoprotein: When to rethink too much of a good thing
Dastmalchi, L. N., German, C. A., & Taub, P. R. (2023) · American Journal of Preventive Cardiology · doi:10.1016/j.ajpc.2023.100511 · Cited by 18 · see citing works
Bocchi, L., Pisciotta, L., Fasano, T., Candini, C., Puntoni, M. R., Sampietro, T., Bertolini, S., & Calandra, S. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.01.008 · Cited by 17 · see citing works
Primary genetic disorders affecting high density lipoprotein (HDL)
Kosmas, C. E., Silverio, D., Sourlas, A., Garcia, F., Montan, P. D., & Guzman, E. (2018) · Drugs in Context · doi:10.7573/dic.212546 · Cited by 17 · see citing works
Guía Europea de Prevención Cardiovascular en la Práctica Clínica. Adaptación española del CEIPC 2008
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Sala, L. A., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano, A. P. R., et al. (2009) · Revista Clínica Española · doi:10.1016/s0014-2565(09)71477-8 · Cited by 16 · see citing works
Bodaghi, A. B., Ebadi, E., Gholami, M. J., Azizi, R., & Shariati, A. (2023) · Health Science Reports · doi:10.1002/hsr2.1779 · Cited by 15 · see citing works
Rare thesaurismosis and xanthomatosis
Chalès, G., Coiffier, G., & Guggenbuhl, P. (2011) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2011.10.016 · Cited by 15 · see citing works
Familial occurrence of abnormalities of high-density lipoprotein cholesterol
Kral, B. G., & Becker, D. M. (2007) · Journal of clinical lipidology · doi:10.1016/j.jacl.2007.01.006 · Cited by 13 · see citing works
Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion)
Wada, M., Iso, T., Asztalos, B. F., Takama, N., Nakajima, T., Seta, Y., Kaneko, K., Taniguchi, Y., Kobayashi, H., Nakajima, K., et al. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.04.018 · Cited by 13 · see citing works
Steiner, C., Holleboom, A. G., Karuna, R., Motazacker, M. M., Kuivenhoven, J. A., Frikke‐Schmidt, R., Tybjærg‐Hansen, A., Rohrer, L., Rentsch, K., & von Eckardstein, A. (2011) · Clinical Science · doi:10.1042/cs20110482 · Cited by 12 · see citing works
Molecular characterization of two patients with severe LCAT deficiency
Charlton-Menys, V., Pisciotta, L., Durrington, P. N., Neary, R. H., Short, C. D., Calabresi, L., Calandra, S., & Bertolini, S. (2007) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfm311 · Cited by 12 · see citing works
Genetics and regulation of HDL metabolism
Kardassis, D., Thymiakou, E., & Chroni, A. (2021) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2021.159060 · Cited by 12 · see citing works
Khoury, P. E., Couvert, P., Elbitar, S., Ghaleb, Y., Khalil, Y. A., Azar, Y., Ayoub, C., Superville, A., Guérin, M., Rabès, J., et al. (2018) · Journal of clinical lipidology · doi:10.1016/j.jacl.2018.08.013 · Cited by 11 · see citing works
Sánchez-Chaparro, M. Á., Pérez‐Martínez, P., Ibarretxe, D., Tembra, M. S., & Valdivielso, P. (2018) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/j.arteri.2018.04.005 · Cited by 11 · see citing works
Management of Inherited Atherogenic Dyslipidemias in Children
Guardamagna, O., Cagliero, P., & Abello, F. (2012) · Therapeutic Apheresis and Dialysis · doi:10.1111/j.1744-9987.2012.01146.x · Cited by 10 · see citing works
Guía Europea de Prevención Cardiovascular en la Práctica Clínica. Adaptación española del CEIPC 2008
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano‐Álvarez, A., et al. (2009) · Hipertensión y Riesgo Vascular · doi:10.1016/s1889-1837(09)72176-2 · Cited by 10 · see citing works
Very low HDL levels: clinical assessment and management
Bonilha, I., Luchiari, B., Nadruz, W., & Sposito, A. (2023) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000585 · Cited by 12 · see citing works
Bejarano, J. M. L., Royo-Bordonada, M., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano, Á., et al. (2009) · Atención Primaria · doi:10.1016/j.aprim.2008.10.024 · Cited by 54 · see citing works
Kon, M., Hirayama, S., Horiuchi, Y., Ueno, T., Idei, M., Fueki, Y., Seino, U., Goto, S., Maruyama, H., Iino, N., et al. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.07.016 · Cited by 10 · see citing works
A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease
Esperón, P., Vital, M., Raggio, V. E., Alallón, W., & Stoll, M. (2007) · Clinica Chimica Acta · doi:10.1016/j.cca.2007.10.015 · Cited by 10 · see citing works
Criteria for referring patients to Spanish Atherosclerosis Society lipid units
Sánchez-Chaparro, M. Á., Pérez‐Martínez, P., Ibarretxe, D., Tembra, M. S., Valdivielso, P., Ros, E., Martínez, S. H., Cenarro, A., Sánchez, M. Á., Ibarretxe, D., et al. (2019) · Clínica e Investigación en Arteriosclerosis (English Edition) · doi:10.1016/j.artere.2019.01.002 · Cited by 9 · see citing works
Familial genetic risk factors in premature cardiovascular disease: a family study
Yücel, O., Karahan, O., Zorlu, A., & Manduz, Ş. (2011) · Molecular Biology Reports · doi:10.1007/s11033-011-1430-x · Cited by 9 · see citing works
Guía Europea de Prevención Cardiovascular en la Práctica Clínica. Adaptación española del CEIPC 2008
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano‐Álvarez, A., et al. (2009) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/s0214-9168(09)71131-3 · Cited by 9 · see citing works
Stoye, N. M., Jung, P., Guilherme, M. D. S., Lotz, J., Fellgiebel, A., & Endres, K. (2020) · Journal of Alzheimer s Disease Reports · doi:10.3233/adr-190165 · Cited by 8 · see citing works
Guía Europea de Prevención Cardiovascular en la Práctica Clínica: Adaptación Española del CEIPC 2008
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Álvarez, F. V., Lizcaino, A., et al. (2008) · doi:10.4321/repisalud.5189 · Cited by 8 · see citing works
Pisciotta, L., Vitali, C., Favari, E., Fossa, P., Adorni, M. P., Leone, D., Artom, N., Fresa, R., Calabresi, L., Calandra, S., et al. (2015) · Journal of clinical lipidology · doi:10.1016/j.jacl.2015.09.001 · Cited by 7 · see citing works
Tuvdendorj, D., Munoz, A., Ruiz-Barros, V., Schwarz, J., Montalto, G., Chandalia, M., Sowers, L. C., Rizzo, M., Murphy, E. J., & Abate, N. I. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.06.024 · Cited by 6 · see citing works
Lipoprotein and Lipid Metabolism
Hegele, R. A. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00100-2 · Cited by 7 · see citing works
Guía Europea de Prevención Cardiovascular en la Práctica Clínica. Adaptación española del CEIPC 2008
Lobos, J. M., Royo‐Bordonada, M. Á., Brotons, C., Álvarez-Sala, L., Armario, P., Maiques, A., Mauricio, D., Sans, S., Villar, F., Lizcano‐Álvarez, A., et al. (2009) · Medicina de Familia SEMERGEN · doi:10.1016/s1138-3593(09)70424-1 · Cited by 5 · see citing works
Lipoprotein and Lipid Metabolism
Hegele, R. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-812535-9.00007-8 · Cited by 5 · see citing works
Toth, P. P. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-533-6_9 · Cited by 5 · see citing works
von Eckardstein, A. (2008) · Drug Discovery Today Disease Mechanisms · doi:10.1016/j.ddmec.2008.10.004 · Cited by 5 · see citing works
[The role of molecular biology in the diagnosis and treatment of cardiovascular diseases].
Mariotti, S., Capparuccia, C., Ripa, C., Olivieri, F., Lisa, R., Procopio, A. D., & Antonicelli, R. (2010) · PubMed · Cited by 4 · see citing works
Yanoff, M., & Sassani, J. W. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-2874-9.00008-9 · Cited by 4 · see citing works
Bases genéticas de la variación en los niveles plasmáticos de HDL-colesterol
Molina, M. T. V. (2008) · Revista de Endocrinología y Nutrición · Cited by 4 · see citing works
Gell, J. S., & van Heyningen, C. (2013) · Cited by 3 · see citing works
Darabi, M., Zakiev, E., & Kontush, A. (2020) · Contemporary cardiology · doi:10.1007/978-3-030-56514-5_18 · Cited by 3 · see citing works
Corneal thickness in the case of familial lecithin-cholesterol acyltransferase deficiency
Kinoshita, S., Sugita, S., & Yoshida, A. (2021) · American Journal of Ophthalmology Case Reports · doi:10.1016/j.ajoc.2021.101211 · Cited by 2 · see citing works
Genetics of lipoprotein disorders and coronary atheroma
Durrington, P. N. (2007) · CRC Press eBooks · doi:10.1201/b13464-13 · Cited by 2 · see citing works
Hypertriglyzeridämie und HDL-Mangel
von Eckardstein, A. (2017) · Praxis · doi:10.1024/1661-8157/a002760 · Cited by 1 · see citing works
Kathiresan, S., & Rader, D. J. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374934-5.00023-4 · Cited by 1 · see citing works
Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management
Cupido, A. J., Stoekenbroek, R. M., & Kastelein, J. J. P. (2016) · Springer eBooks · doi:10.1007/978-3-319-44203-7_21 · Cited by 1 · see citing works
Takeda, T., Ide, T., Okuda, D., Kuroda, M., Asada, S., Kirinashizawa, M., Yamamoto, M., Miyoshi, J., Yokote, K., & Mizutani, N. (2022) · Journal of clinical lipidology · doi:10.1016/j.jacl.2022.06.001 · Cited by 1 · see citing works
Paalvast, Y., Kuivenhoven, J. A., Bakker, B. M., & Groen, A. K. (2018) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2018.06.052 · Cited by 1 · see citing works
Genetic Disorders of Lipoprotein Metabolism
Cuchel, M., Qasim, A., & Rader, D. J. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-533-6_2 · Cited by 1 · see citing works
Genetics of Coronary Heart Disease
Cunnington, M. S., & Keavney, B. D. (2009) · doi:10.1002/9781444309768.ch21 · Cited by 1 · see citing works
Genetic Disorders of the Lipoprotein Metabolism; Diagnosis and Management
Bakker, A. C., Jakulj, L., & Kastelein, J. J. P. (2010) · Springer eBooks · doi:10.1007/978-1-84996-471-5_20 · Cited by 1 · see citing works
Klinische Befunde und rationelle Differenzialdiagnostik der diabetischen Dyslipidämie
von Eckardstein, A. (2012) · Der Diabetologe · doi:10.1007/s11428-012-0890-5
Cavelier, C., & von Eckardstein, A. (2007) · doi:10.1002/9783527625178.ch18
Inherited Lipoprotein Disorders
Dembowski, E., & Davidson, M. H. (2011) · Humana Press eBooks · doi:10.1007/978-1-60327-502-6_4
Klose, G., & Hambrecht, R. (2013) · Der Kardiologe · doi:10.1007/s12181-013-0505-4
Hutten, B. A., Sivapalaratnam, S., & Trip, M. D. (2010) · Bohn Stafleu van Loghum eBooks · doi:10.1007/978-90-313-9572-9_2
New Research Advances in Genetics Associated With High-density Lipoprotein Cholesterol*
Xiao-Yan, L. I. U., Lü, Q., Chen, W., & Tang, C. (2013) · PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS · doi:10.3724/sp.j.1206.2012.00140
Erdur, C. B., & Güzin, Y. (2016) · Journal of Dr Behcet Uz Children s Hospital · doi:10.5222/buchd.2016.001
From the NLA President: Making the right connections
Bittner, V. (2010)
Fettstoffwechsel: Diagnostik, Bewertung und Behandlung primärer Dyslipoproteinämien
März, W., & Klose, G. (2017) · Adipositas - Ursachen Folgeerkrankungen Therapie · doi:10.1055/s-0037-1618961
Hypertriglyzeridämie und HDL-Mangel
von Eckardstein, A. (2017) · CardioVasc · doi:10.1007/s15027-017-1275-x
Kathiresan, S., & Rader, D. J. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.00055-x
Kontush, A., & Chapman, M. J. (2011) · Wiley eBooks · doi:10.1002/9781118158678.ch5
- Authors
- von Eckardstein, A.
- Venue
- Atherosclerosis
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 186
- Issue
- 2
- Pages
- 231-239
- ISSN
- 0021-9150 (ISSN-L)
- OpenAlex
- W2160550927
- Cited by
- 112
- References
- 50
- Citations by year
- 2024: 2 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 4 · 2018: 7 · 2017: 6 · 2016: 3 · 2015: 3 · 2014: 5 · 2013: 5 · 2012: 6
- FWCI
- 1.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Atherosclerosis (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- apolipoprotein A-I, ABCA1, lecithin:cholesterol acyltransferase, low HDL cholesterol, differential diagnosis, vertical transmission, genetic mutations, cardiovascular disease prevention, cardiovascular risk factors
- MeSH terms
- Diagnosis, Differential, Humans, Hypolipoproteinemias, Cholesterol, HDL, Syndrome, Dyslipidemias
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