Research paperIschaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis A comparative study of genetic and environmental factors in 274 heterozygous cases
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Genetic disorders of lipoprotein metabolism
2019, Clinical Molecular Medicine: Principles and PracticeDifferences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: A systematic review and meta-analysis
2009, AtherosclerosisCitation Excerpt :The characteristics of these 22 studies are described in Table 1. Nine of the 22 studies used clinical criteria to assess the diagnosis of FH [5,8–14,39]; in 12 studies FH was confirmed by DNA analysis [3,4,16,17,32–38]; in the remaining two studies, the diagnosis of FH in part of the population was based on clinical criteria, while in the other part of that population the diagnosis was based on genetic testing [6,15]. The presence for xanthomas was assessed by physical examination in the majority of the studies.
Evidence that non-lipid cardiovascular risk factors are associated with high prevalence of coronary artery disease in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia
2007, International Journal of CardiologyCitation Excerpt :Regarding the hFH group, the prevalence of the non-lipid cardiovascular risk factors in patients was lower compared even with the general population coming from the same geographical area [6,18,19]. In our study male gender, diabetes and advanced age were independently associated with the presence of CAD in hFH patients after performing multivariate analysis, and this is in line with several studies in other populations [7,20–24]. In contrary with other studies [7,20] smoking was not correlated with presence of CAD in the whole population or in each subgroup separately.
Is there a genetic basis for resistance to atherosclerosis?
2002, Atherosclerosis