VALLEJO-VAZ, Antonio J., Sreenivasa Rao K. SESHASAI, Della COLE, G Kees HOVINGH, John J. P. KASTELEIN, Pedro MATA, Frederick J. RAAL, Raul D. SANTOS, Handrean SORAN, Gerald F. WATTS, Marianne ABIFADEL, Carlos A. AGUILAR-SALINAS, Asif AKRAM, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Maciej BANACH, Martin P. BOGSRUD, Mafalda BOURBON, Eric BRUCKERT, Josip CAR, Pablo CORRAL, Olivier DESCAMPS, Hans DIEPLINGER, Ronen DURST, Tomáš FREIBERGER, Isabela M. GASPAR, Jaques GENEST, Mariko HARADA-SHIBA, Lixin JIANG, Meral KAYIKCIOGLU, Carolyn S. P. LAM, Gustavs LATKOVSKIS, Ulrich LAUFS, Evangelos LIBEROPOULOS, Lennart NILSSON, Børge G. NORDESTGAARD, John M. O´DONOGHUE, Amirhossein SAHEBKAR, Heribert SCHUNKERT, Abdulla SHEHAB, Mario STOLL, Ta-Chen SU, Andrey SUSEKOV, Elisabeth WIDÉN, Alberico L. CATAPANO and Kausik K. RAY. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. Clare (Irsko): ELSEVIER SCI IRELAND LTD, 2015, vol. 243, No 1, p. 257-259. ISSN 0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2015.09.021.
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Basic information
Original name Familial hypercholesterolaemia: A global call to arms
Authors VALLEJO-VAZ, Antonio J. (826 United Kingdom of Great Britain and Northern Ireland), Sreenivasa Rao K. SESHASAI (826 United Kingdom of Great Britain and Northern Ireland), Della COLE (826 United Kingdom of Great Britain and Northern Ireland), G Kees HOVINGH (528 Netherlands), John J. P. KASTELEIN (528 Netherlands), Pedro MATA (724 Spain), Frederick J. RAAL (710 South Africa), Raul D. SANTOS (76 Brazil), Handrean SORAN (826 United Kingdom of Great Britain and Northern Ireland), Gerald F. WATTS (36 Australia), Marianne ABIFADEL (422 Lebanon), Carlos A. AGUILAR-SALINAS (484 Mexico), Asif AKRAM (826 United Kingdom of Great Britain and Northern Ireland), Fahad ALNOURI (682 Saudi Arabia), Rodrigo ALONSO (152 Chile), Khalid AL-RASADI (512 Oman), Maciej BANACH (616 Poland), Martin P. BOGSRUD (578 Norway), Mafalda BOURBON (620 Portugal), Eric BRUCKERT (250 France), Josip CAR (826 United Kingdom of Great Britain and Northern Ireland), Pablo CORRAL (32 Argentina), Olivier DESCAMPS (56 Belgium), Hans DIEPLINGER (40 Austria), Ronen DURST (376 Israel), Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution), Isabela M. GASPAR (620 Portugal), Jaques GENEST (124 Canada), Mariko HARADA-SHIBA (392 Japan), Lixin JIANG (156 China), Meral KAYIKCIOGLU (792 Turkey), Carolyn S. P. LAM (702 Singapore), Gustavs LATKOVSKIS (440 Lithuania), Ulrich LAUFS (276 Germany), Evangelos LIBEROPOULOS (300 Greece), Lennart NILSSON (752 Sweden), Børge G. NORDESTGAARD (208 Denmark), John M. O´DONOGHUE (826 United Kingdom of Great Britain and Northern Ireland), Amirhossein SAHEBKAR (364 Islamic Republic of Iran), Heribert SCHUNKERT (276 Germany), Abdulla SHEHAB (784 United Arab Emirates), Mario STOLL (858 Uruguay), Ta-Chen SU (158 Taiwan), Andrey SUSEKOV (643 Russian Federation), Elisabeth WIDÉN (246 Finland), Alberico L. CATAPANO (380 Italy) and Kausik K. RAY (826 United Kingdom of Great Britain and Northern Ireland).
Edition Atherosclerosis, Clare (Irsko), ELSEVIER SCI IRELAND LTD, 2015, 0021-9150.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30201 Cardiac and Cardiovascular systems
Country of publisher Ireland
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 3.942
RIV identification code RIV/00216224:14740/15:00085140
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1016/j.atherosclerosis.2015.09.021
UT WoS 000363266000037
Keywords in English Familial hypercholesterolaemia; disease; Prevalence
Tags rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Eva Špillingová, učo 110713. Changed: 4/4/2016 15:41.
Abstract
Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1], [2] and [3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2], [3], [4] and [5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated [1], thereby representing a major global public health challenge.
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