Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3174
Título: Familial hypercholesterolaemia: a global call to arms
Autor: Vallejo-Vaz, A.J.
Kondapally Seshasai, S.R.
Cole, D.
Hovingh, G.K.
Kastelein, J.J.
Mata, P.
Raal, F.J.
Santos, R.D.
Soran, H.
Watts, G.F.
Abifadel, M.
Aguilar-Salinas, C.A.
Akram, A.
Alnouri, F.
Alonso, R.
Al-Rasadi, K.
Banach, M.
Bogsrud, M.P.
Bourbon, M.
Bruckert, E.
Car, J.
Corral, P.
Descamps, O.
Dieplinger, H.
Durst, R.
Freiberger, T.
Gaspar, I.M.
Genest, J.
Harada-Shiba, M.
Jiang, L.
Kayikcioglu, M.
Lam, C.S.
Latkovskis, G.
Laufs, U.
Liberopoulos, E.
Nilsson, L.
Nordestgaard, B.G.
O'Donoghue, J.M.
Sahebkar, A.
Schunkert, H.
Shehab, A.
Stoll, M.
Su, TC
Susekov, A.
Widén, E.
Catapano, A.L.
Ray, K.K.
Palavras-chave: Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Data: 18-Set-2015
Editora: Elsevier
Citação: Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18.
Resumo: 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 LDLreceptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDLcholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1e3]. 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 [2e5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge.
Peer review: yes
URI: http://hdl.handle.net/10400.18/3174
DOI: 10.1016/j.atherosclerosis.2015.09.021
ISSN: 0021-9150
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0021915015301301
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

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