Articles producció científica> Medicina i Cirurgia

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

  • Dades identificatives

    Identificador: imarina:5129205
    Handle: https://hdl.handle.net/20.500.11797/imarina5129205
    Autors:
    Wiegman, AlbertGidding, Samuel S.Watts, Gerald F.Chapman, M. JohnGinsberg, Henry N.Cuchel, MarinaOse, LeivAverna, MaurizioBoileau, CatherineBoren, JanBruckert, EricCatapano, Alberico L.Defesche, Joep C.Descamps, Olivier S.Hegele, Robert A.Hovingh, G. KeesHumphries, Steve E.Kovanen, Petri T.Kuivenhoven, Jan AlbertMasana, LuisNordestgaard, Borge G.Pajukanta, PaeviParhofer, Klaus G.Raal, Frederick J.Ray, Kausik K.Santos, Raul D.Stalenhoef, Anton F. H.Steinhagen-Thiessen, ElisabethStroes, Erik S.Taskinen, Marja-RiittaTybjaerg-Hansen, AnneWiklund, OlovEuropean Atherosclerosis Soc Conse
    Resum:
    Familial hypercholesterolæmia (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 hypercholesterolæmia 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 ca

  • Altres:

    Autor segons l'article: Wiegman, Albert; Gidding, Samuel S.; Watts, Gerald F.; Chapman, M. John; Ginsberg, Henry N.; Cuchel, Marina; Ose, Leiv; Averna, Maurizio; Boileau, Catherine; Boren, Jan; Bruckert, Eric; Catapano, Alberico L.; Defesche, Joep C.; Descamps, Olivier S.; Hegele, Robert A.; Hovingh, G. Kees; Humphries, Steve E.; Kovanen, Petri T.; Kuivenhoven, Jan Albert; Masana, Luis; Nordestgaard, Borge G.; Pajukanta, Paevi; Parhofer, Klaus G.; Raal, Frederick J.; Ray, Kausik K.; Santos, Raul D.; Stalenhoef, Anton F. H.; Steinhagen-Thiessen, Elisabeth; Stroes, Erik S.; Taskinen, Marja-Riitta; Tybjaerg-Hansen, Anne; Wiklund, Olov;European Atherosclerosis Soc Conse
    Departament: Medicina i Cirurgia
    Autor/s de la URV: Masana Marín, Luis
    Paraules clau: Treatment Statin Pcsk9 inhibitor Ldl cholesterol Familial hypercholesterolæmia Ezetimibe Diagnosis Consensus statement Children Adolescents statin pcsk9 inhibitor ldl cholesterol familial hypercholesterolaemia ezetimibe diagnosis consensus statement children adolescents
    Resum: Familial hypercholesterolæmia (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 hypercholesterolæmia 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.
    Àrees temàtiques: Saúde coletiva Nutrição Medicina iii Medicina ii Medicina i Interdisciplinar General medicine Farmacia Educação física Direito Ciências biológicas ii Ciências biológicas i Cardiology and cardiovascular medicine Cardiac & cardiovascular systems
    Accès a la llicència d'ús: https://creativecommons.org/licenses/by/3.0/es/
    Adreça de correu electrònic de l'autor: luis.masana@urv.cat
    Identificador de l'autor: 0000-0002-0789-4954
    Data d'alta del registre: 2024-09-07
    Versió de l'article dipositat: info:eu-repo/semantics/publishedVersion
    URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
    Referència a l'article segons font original: European Heart Journal. 36 (36): 2425-2437
    Referència de l'ítem segons les normes APA: Wiegman, Albert; Gidding, Samuel S.; Watts, Gerald F.; Chapman, M. John; Ginsberg, Henry N.; Cuchel, Marina; Ose, Leiv; Averna, Maurizio; Boileau, Cat (2015). Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.. European Heart Journal, 36(36), 2425-2437. DOI: 10.1093/eurheartj/ehv157
    Entitat: Universitat Rovira i Virgili
    Any de publicació de la revista: 2015
    Tipus de publicació: Journal Publications

  • Paraules clau:

    Cardiac & Cardiovascular Systems,Cardiology and Cardiovascular Medicine
    Treatment
    Statin
    Pcsk9 inhibitor
    Ldl cholesterol
    Familial hypercholesterolæmia
    Ezetimibe
    Diagnosis
    Consensus statement
    Children
    Adolescents
    statin
    pcsk9 inhibitor
    ldl cholesterol
    familial hypercholesterolaemia
    ezetimibe
    diagnosis
    consensus statement
    children
    adolescents
    Saúde coletiva
    Nutrição
    Medicina iii
    Medicina ii
    Medicina i
    Interdisciplinar
    General medicine
    Farmacia
    Educação física
    Direito
    Ciências biológicas ii
    Ciências biológicas i
    Cardiology and cardiovascular medicine
    Cardiac & cardiovascular systems

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