Familial hypercholesterolaemia: a global call to arms
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Date
2015
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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.
Fil: Corral, Pablo. Universidad FASTA. Facultad de Ciencias Médicas; Argentina.
Fil: Corral, Pablo. Universidad FASTA. Facultad de Ciencias Médicas; Argentina.