Familial Hypercholesterolaemia in Children and Adolescents: Gaining Decades of Life by Optimizing Detection and Treatment
Albert Wiegman,Samuel S. Gidding,Gerald F. Watts,M. John Chapman,Henry N. Ginsberg,Marina Cuchel,Leiv Ose,Maurizio Averna,Catherine Boileau,Jan Borén,Eric Bruckert,Alberico L. Catapano,Joep C. Defesche,Olivier S. Descamps,Robert A. Hegele,G. Kees Hovingh,Steve E. Humphries,Petri T. Kovanen,Jan Albert Kuivenhoven,Luis Masana,Børge G. Nordestgaard,Päivi Pajukanta,Klaus G. Parhofer,Frederick J. Raal,Kausik K. Ray,Raul D. Santos,Anton F. H. Stalenhoef,Elisabeth Steinhagen-Thiessen,Erik S.G. Stroes,Marja-Riitta Taskinen,Marja-Riitta Taskinen,Anne Tybjærg-Hansen,Olov Wiklund +32 more
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TLDR
This consensus paper aims to improve awareness of the need for early detection and management of FH children by recommending cascade screening of families using a combined phenotypic and genotypic strategy.Abstract:
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is 10 years, or ideally 50% reduction from baseline if 8–10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.read more
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2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular riskThe Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS)
François Mach,Colin Baigent,Alberico L. Catapano,Konstantinos C. Koskinas,Manuela Casula,Lina Badimon,M. John Chapman,Guy De Backer,Victoria Delgado,Brian A. Ference,Ian D. Graham,Alison Halliday,Ulf Landmesser,Borislava Mihaylova,Terje R. Pedersen,Gabriele Riccardi,Dimitrios J. Richter,Marc S. Sabatine,Marja-Riitta Taskinen,Lale Tokgozoglu,Olov Wiklund,Christian Mueller,Heinz Drexel,Victor Aboyans,Alberto Corsini,Wolfram Doehner,Michel Farnier,Bruna Gigante,Meral Kayıkçıoğlu,Goran Krstacic,Ekaterini Lambrinou,Basil S. Lewis,Josep Masip,Philippe Moulin,Steffen E. Petersen,Anna Sonia Petronio,Massimo F Piepoli,Xavier Pintó,Lorenz Räber,Kausik K. Ray,Željko Reiner,Walter F Riesen,Marco Roffi,Jean-Paul Schmid,Evgeny Shlyakhto,Iain A. Simpson,Erik S.G. Stroes,Isabella Sudano,Alexandros D Tselepis,Margus Viigimaa,Cecile Vindis,Alexander Vonbank,Michal Vrablik,Mislav Vrsalovic,José Luis Zamorano,Jean-Philippe Collet,Stephan Windecker,Veronica Dean,Donna Fitzsimons,Chris P Gale,Diederick E. Grobbee,Sigrun Halvorsen,Gerhard Hindricks,Bernard Iung,Peter Jüni,Hugo A. Katus,Christophe Leclercq,Maddalena Lettino,Béla Merkely,Miguel Sousa-Uva,Rhian M. Touyz,Djamaleddine Nibouche,Parounak H. Zelveian,Peter Siostrzonek,Ruslan Najafov,Philippe van de Borne,Belma Pojskic,Arman Postadzhiyan,Lambros Kypris,Jindřich Špinar,Mogens Lytken Larsen,Hesham Salah Eldin,Timo E. Strandberg,Jean Ferrières,Rusudan Agladze,Ulrich Laufs,Loukianos S. Rallidis,Laszlo Bajnok,Thorbjorn Gudjonsson,Vincent Maher,Yaakov Henkin,Michele Massimo Gulizia,Aisulu Mussagaliyeva,Gani Bajraktari,Alina Kerimkulova,Gustavs Latkovskis,Omar Hamoui,Rimvydas Šlapikas,Laurent Visser,P. Dingli,Victoria Ivanov,Aneta Boskovic,Mbarek Nazzi,Frank L.J. Visseren,Irena Mitevska,Kjetil Retterstøl,Piotr Jankowski,Ricardo Fontes-Carvalho,Dan Gaita,Marat V. Ezhov,Marina Foscoli,Vojislav Giga,Daniel Pella,Zlatko Fras,Leopoldo Pérez de Isla,Emil Hagström,Roger Lehmann,Leila Abid,Oner Ozdogan,Olena Mitchenko,Riyaz S. Patel +120 more
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2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk
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