REDI - Universidad FASTA

Familial hypercholesterolaemia: a global call to arms

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Show simple item record Corral, Pablo 2015 2016-05-20T22:54:56Z 2016-05-20T22:54:56Z 2015
dc.description 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 . 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. es_ES
dc.format application/pdf es_ES
dc.language spa es_ES
dc.rights info:eu-repo/semantics/openAccess es_ES
dc.rights es_ES
dc.source instname:Universidad FASTA es_ES
dc.source reponame:REDI es_ES
dc.title Familial hypercholesterolaemia: a global call to arms es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:ar-repo/semantics/artículo es_ES
dc.type info:eu-repo/semantics/publishedVersion es_ES

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