Tag Archives: hypercholesterolaemia

Familial hypercholesterolaemia or not? The importance of considering polygenic hypercholesterolaemia in those with no monogenic cause for familial hypercholesterolaemia (FH), was outlined by Professor Steve Humphries (UCL Institute of Cardiovascular Science, London).1 By looking for the presence of specific high low-density lipoprotein cholesterol (LDL-C), single nucleotide polymorphisms (SNPs) and combining these to generate a SNP-score, those with the most variants can be identified. Professor Steve Humphries Individuals who are in the top five deciles of the SNP-score are highly likely to have a polygenic explanation for their high LDL-C

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FH: improving detection in primary care The launch of the NICE (National Institute of Health and Care Excellence) guidelines for familial hypercholesterolaemia (FH) heralded great optimism for improving detection rates in primary care.1 Even with new research showing that FH is more common than previously thought,2  still around 80% of patients are not recognised. Novel detection approaches are clearly needed. Professor Nadeem Qureshi (University of Nottingham) presented preliminary findings from six GP centres taking part in FAMCHOL (Feasibility of Improving Identification of Familial Hypercholesterolaemia in General Practice: Intervention

Introduction Bile acid sequestrants (BAS) were the first class of lipid-lowering drug to be developed for reducing blood cholesterol levels.1 Now, after their introduction 30 years ago, BAS still continue to command a position in the treatment of hyperlipidaemia.2 How do BAS work? Figure 1. Mode of action of bile acid sequestrants BAS bind to negatively charged bile acids in the intestine and impede their absorption (figure 1). This process depletes the bile acid pool and disrupts the enterohepatic circulation of bile acids, thus, increasing the synthesis of bile acids. Cholesterol is, therefore, diverted to bile acid synthesis, thereby reduc

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