Abstract
ABSTRACTIntroduction: Familial hypercholesterolemia (FH) is a genetically heterogeneous disorder of low density lipoprotein metabolism characterized by lifelong elevation of serum low density lipoprotein cholesterol and premature valvular and atherosclerotic cardiovascular disease. The two manifestations of this disease, homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH) were, until recently, assumed to be genetically and phenotypically distinct with the former assumed to be more severe. However, with the growing use of genetic testing to diagnose FH, considerable phenotypic overlap between HoFH and HeFH is now recognizedAreas covered: We provide a contemporary overview of the genetics, phenotype, current and emerging treatment options for HoFH. We conclude with a discussion of the role genotype and phenotype should play in the diagnosis and management of HoFH as it is now understood.Expert opinion: The identification of a HoFH genotype has important diagnostic and potentially, management value and should be sought where possible. However, a negative genetic result should not be used to rule out the diagnosis of HoFH. Generally, phenotype should carry more weight in management decisions.
Published Version
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