The hinterland of familial hypercholesterolaemia: what do we not know?

Current Opinion in Lipidology
Anthony S Wierzbicki, Gerald F Watts

Abstract

Familial hypercholesterolaemia is the commonest autosomal dominant disorder in man, but many questions about familial hypercholesterolaemia remain to be answered. Guidelines are increasing in importance as healthcare becomes standardized. The review suggests areas that require more investigation or where pertinent guidelines may need to be reviewed. Familial hypercholesterolaemia is commoner than previously thought, but its epidemiology needs further investigation against a background of changing environmental and lifestyle factors that may bear on its phenotypic expression. Screening for familial hypercholesterolaemia may be more difficult than might be thought as cascade testing may not capture all cases effectively and universal screening appears compelling, but requires testing and evaluation. Cardiovascular disease guidelines are moving to being risk based, but familial hypercholesterolaemia stands alone as defined by large database of lipids-cholesterol criteria. A risk-based approach may need to be considered for familial hypercholesterolaemia, but a good evidence base is required. The effects of older therapies on prognosis in familial hypercholesterolaemia are based on surrogate as opposed to cardiovascular disease out...Continue Reading

References

Nov 1, 1980·Scientific American·R A Stallones
May 23, 2001·JAMA : the Journal of the American Medical Association·UNKNOWN Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults
Jan 25, 2003·Journal of Internal Medicine·P R W de Sauvage NoltingJ J P Kastelein
Jun 17, 2004·Seminars in Vascular Medicine·David WonderlingMargaret Thorogood
Jun 25, 2004·American Journal of Medical Genetics. Part a·Theresa MarteauUNKNOWN Genetic Risk Assessment for FH Trial Study Group
Mar 24, 2006·The New England Journal of Medicine·Jonathan C CohenHelen H Hobbs
Dec 5, 2006·Journal of Medical Genetics·S E HumphriesUNKNOWN Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee
Sep 15, 2007·BMJ : British Medical Journal·David S WaldNicholas J Wald
Apr 1, 2008·The New England Journal of Medicine·John J P KasteleinUNKNOWN ENHANCE Investigators
Aug 30, 2008·BMJ : British Medical Journal·Anthony S WierzbickiUNKNOWN Guideline Development Group
Nov 13, 2008·BMJ : British Medical Journal·Jorie VersmissenEric J G Sijbrands
May 27, 2011·Journal of Clinical Lipidology·Anne C GoldbergUNKNOWN National Lipid Association Expert Panel on Familial Hypercholesterolemia
May 27, 2011·Journal of Clinical Lipidology·Matthew K ItoUNKNOWN National Lipid Association Expert Panel on Familial Hypercholesterolemia
Jun 2, 2011·Diabetic Medicine : a Journal of the British Diabetic Association·J CederholmUNKNOWN Swedish National Diabetes Register
Jun 23, 2011·JAMA : the Journal of the American Medical Association·David PreissKausik K Ray
Jul 30, 2011·The Journal of Pediatrics·David S WaldNicholas J Wald
Sep 14, 2011·Circulation·Ieva ToleikytePer Ole Iversen
Sep 29, 2011·International Journal of Clinical Practice·A S Wierzbicki
Dec 6, 2011·American Journal of Medical Genetics. Part a·Joan K MorrisNicholas J Wald
Feb 2, 2012·European Journal of Human Genetics : EJHG·Roeland HuijgenJan L A van Rijckevorsel
Aug 16, 2012·The Journal of Clinical Endocrinology and Metabolism·Marianne BennBørge G Nordestgaard
Mar 16, 2013·International Journal of Cardiology·Zanfina AdemiDanny Liew
Jan 15, 2014·International Journal of Cardiology·Gerald F WattsJohn J P Kastelein

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Citations

Jul 19, 2017·European Journal of Preventive Cardiology·Gerald F Watts, Jing Pang
Dec 9, 2017·Nature Reviews. Disease Primers·Joep C DefescheAnthony S Wierzbicki
Mar 24, 2016·Current Cardiology Reports·D P HughesA S Wierzbicki
Sep 2, 2016·The Medical Journal of Australia·Damon A Bell, Gerald F Watts

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Methods Mentioned

BETA
genotyping
antisense oligonucleotides

Software Mentioned

QResearch Risk calculator ( QRISK ) - 2
QRISK2

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