Tag Archives: familial hypercholesterolaemia

FH initiative Headlining the Congress was the launch of the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), a consortium of major FH registries across Europe, Asia-Pacific, Africa and South America, led by Professor Kausik Ray (Imperial College, London). As shown by the previous EAS Consensus Panel statement, FH is one of the most common inherited conditions, yet it is underdiagnosed and undertreated in almost all countries.1 The FHSC will provide information on key aspects relating to FH care which will be critical in leveraging public policy to improve detection and management. Linking patient and clinician empowerment unde

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

Lowering LDL-cholesterol: we need to do better It is essential that high-risk patients attain the recommended low-density lipoprotein (LDL)-cholesterol target. As reported at the first late-breaking session, the choice and dose of statin are key factors influencing LDL-cholesterol lowering. In a meta-analysis of the VOYAGER (Individual Patient Data Meta-analysis of Statin Therapy in At-risk Groups: Effects of Rosuvastatin, Atorvastatin and Simvastatin) database of 37 studies of high-intensity statins, 71% of patients treated with rosuvastatin 40 mg achieved at least 50% reduction in LDL-cholesterol levels, compared with 59% for atorvastatin 8

Findings Nearly 70% of eligible PCTs responded to this survey, with many PCTs admitting to a lack of formal planning for FH, and incomplete knowledge about relevant FH services. Looking at the results as a whole, I think it is safe to say that the failure to implement the guidelines at PCT level suggests that national guidance is not always given local priority. More than 40% of the respondents admitted to a shortage of specialist care for people with FH, including adults, children and pregnant women. A number of PCTs indicated that they face barriers to treating FH patients and these concerns need to be addressed immediately if the guidelin

Introduction About 10 million deaths in the world are caused each year by coronary heart disease (CHD) and stroke.1 Comparative statistics in Britain2 are on a smaller scale but in relative terms, similar. Total mortality in the UK is approximately 600,000 annually, 36% of which is due to cardiovascular disease. Half of the latter is from CHD, a quarter from stroke and it is the main cause of premature mortality in both men and women. Recently it was estimated that the major modifiable risk factor, raised serum cholesterol, accounted for 45% of all myocardial infarcts in Western Europe.3 The introduction of statins 20 years ago has revolution

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Indications, techniques and effects Low density lipoprotein (LDL)-apheresis is a selective lipid-lowering extracorporeal treatment where LDL and other atherogenic apoB-lipoproteins are removed from circulation while high-density lipoprotein (HDL) remains virtually unchanged. In the last years, individual authors as well as various scientific organisations have proposed different indications for using LDL-apheresis. The most widely used guidelines are those of the Food and Drug Administration (FDA) in the USA,1 of the Federal Committee of Physicians and Health Insurance Funds in Germany2 and recently, those of the International Panel on the M

FH is caused by a single gene defect on chromosome 19. Individuals with two copies of the defective gene have severely raised low-density lipoprotein (LDL) cholesterol levels from birth and are predisposed to early atherosclerosis. Many die in childhood, and most suffer at least one myocardial infarction by the end of their 20s. The milder, heterozygous form of FH is much more common and can be managed using a combination of diet and drugs. The couple for whom the licence has been awarded discovered that they were both heterozygous for FH only after having their first child who is homozygous for FH. The pre-implantation diagnosis will involve

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