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Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project

  • Datos identificativos

    Identificador: imarina:6389511
    Autores:
    Ibarretxe, DaianaRodriguez-Borjabad, CeliaFeliu, AlbertAngel Bilbao, JoseMasana, LluisPlana, Nuria
    Resumen:
    © 2018 Elsevier B.V. Background and aims: Familial hypercholesterolemia (FH) is underdiagnosed in children. We assessed a combination of two screening methods. The first method was to detect hypercholesteraemic children and then study the parents (Ch-P pathway), and the second one was to study the offspring of FH-affected parents (P-Ch pathway). Methods: In the Ch-P path, primary care paediatricians were asked to include lipid profiling or, at least, total cholesterol (TC) and then lipid profiling if TC was higher than 5.2 mmol/L in any clinically indicated blood test. Children with LDL-C ≥ 3.5 mmol/L, plus either a family history of early cardiovascular disease or one parent with severe hypercholesterolemia, were referred to the lipid unit where the parents, rather than their children, were studied. In parents with definite, clinical FH, a genetic study was performed. Focused genetic testing was performed on all offspring of genetically positive parents. The P-Ch path consisted of the active study of children from definite FH adults. Results: Fifty-nine paediatricians covering a total population of 63,616 children agreed to participate in the project. Of the 216 children (122 Ch-P and 94 P-Ch) who were ultimately referred to the lipid unit, 87 children with FH (84% genetically positive) were identified. Additionally, 41 parents (from 40 families) were newly diagnosed with FH (63% genetically positive). Forty-nine different mutations were detected: 46 in the LDLR, 2 in the PCSK9 and 1 in APOB gene. Conclusions: The implementation of active strategies to detect FH in children, in close collaboration with primary care paediatricians, provides a high-performance method for early FH detection.
  • Otros:

    Autor según el artículo: Ibarretxe, Daiana; Rodriguez-Borjabad, Celia; Feliu, Albert; Angel Bilbao, Jose; Masana, Lluis; Plana, Nuria
    Departamento: Medicina i Cirurgia
    Autor/es de la URV: Feliu Rovira, Albert / Ibarretxe Gerediaga, Daiana / Masana Marín, Luis / Plana Gil, Núria / Rodríguez Borjabad, Cèlia
    Palabras clave: Services Reverse cascade screening Receptors, ldl Proprotein convertase 9 Pediatrics Pediatricians Pcsk9 protein, human Parents Opportunistic screening Mutation Mass screening Management Male Hyperlipoproteinemia type ii Humans Guidelines Female Family health Familial hypercholesterolemia Direct cascade screening Diagnosis Cost-effectiveness Children fh Child, preschool Child Apolipoprotein b-100 Apob protein, human Anthropometry Age of onset Adolescents Adolescent opportunistic screening familial hypercholesterolemia direct cascade screening children fh
    Resumen: © 2018 Elsevier B.V. Background and aims: Familial hypercholesterolemia (FH) is underdiagnosed in children. We assessed a combination of two screening methods. The first method was to detect hypercholesteraemic children and then study the parents (Ch-P pathway), and the second one was to study the offspring of FH-affected parents (P-Ch pathway). Methods: In the Ch-P path, primary care paediatricians were asked to include lipid profiling or, at least, total cholesterol (TC) and then lipid profiling if TC was higher than 5.2 mmol/L in any clinically indicated blood test. Children with LDL-C ≥ 3.5 mmol/L, plus either a family history of early cardiovascular disease or one parent with severe hypercholesterolemia, were referred to the lipid unit where the parents, rather than their children, were studied. In parents with definite, clinical FH, a genetic study was performed. Focused genetic testing was performed on all offspring of genetically positive parents. The P-Ch path consisted of the active study of children from definite FH adults. Results: Fifty-nine paediatricians covering a total population of 63,616 children agreed to participate in the project. Of the 216 children (122 Ch-P and 94 P-Ch) who were ultimately referred to the lipid unit, 87 children with FH (84% genetically positive) were identified. Additionally, 41 parents (from 40 families) were newly diagnosed with FH (63% genetically positive). Forty-nine different mutations were detected: 46 in the LDLR, 2 in the PCSK9 and 1 in APOB gene. Conclusions: The implementation of active strategies to detect FH in children, in close collaboration with primary care paediatricians, provides a high-performance method for early FH detection.
    Áreas temáticas: Saúde coletiva Psicología Peripheral vascular disease Odontología Nutrição Medicina iii Medicina ii Medicina i Interdisciplinar General medicine Farmacia Engenharias ii Enfermagem Educação física Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Ciência de alimentos Ciência da computação Cardiology and cardiovascular medicine Cardiac & cardiovascular systems Biotecnología Antropologia / arqueologia
    Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
    ISSN: 00219150
    Direcció de correo del autor: daiana.ibarretxe@urv.cat luis.masana@urv.cat celia.rodriguez@urv.cat albert.feliu@urv.cat celia.rodriguez@urv.cat
    Identificador del autor: 0000-0002-0789-4954 0000-0001-8160-3716 0000-0001-8160-3716
    Fecha de alta del registro: 2024-08-10
    Versión del articulo depositado: info:eu-repo/semantics/acceptedVersion
    Enlace a la fuente original: https://www.atherosclerosis-journal.com/article/S0021-9150(18)31418-7/fulltext
    URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
    Referencia al articulo segun fuente origial: Atherosclerosis. 278 210-216
    Referencia de l'ítem segons les normes APA: Ibarretxe, Daiana; Rodriguez-Borjabad, Celia; Feliu, Albert; Angel Bilbao, Jose; Masana, Lluis; Plana, Nuria (2018). Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project. Atherosclerosis, 278(), 210-216. DOI: 10.1016/j.atherosclerosis.2018.09.039
    DOI del artículo: 10.1016/j.atherosclerosis.2018.09.039
    Entidad: Universitat Rovira i Virgili
    Año de publicación de la revista: 2018
    Tipo de publicación: Journal Publications
  • Palabras clave:

    Cardiac & Cardiovascular Systems,Cardiology and Cardiovascular Medicine,Peripheral Vascular Disease
    Services
    Reverse cascade screening
    Receptors, ldl
    Proprotein convertase 9
    Pediatrics
    Pediatricians
    Pcsk9 protein, human
    Parents
    Opportunistic screening
    Mutation
    Mass screening
    Management
    Male
    Hyperlipoproteinemia type ii
    Humans
    Guidelines
    Female
    Family health
    Familial hypercholesterolemia
    Direct cascade screening
    Diagnosis
    Cost-effectiveness
    Children fh
    Child, preschool
    Child
    Apolipoprotein b-100
    Apob protein, human
    Anthropometry
    Age of onset
    Adolescents
    Adolescent
    opportunistic screening
    familial hypercholesterolemia
    direct cascade screening
    children fh
    Saúde coletiva
    Psicología
    Peripheral vascular disease
    Odontología
    Nutrição
    Medicina iii
    Medicina ii
    Medicina i
    Interdisciplinar
    General medicine
    Farmacia
    Engenharias ii
    Enfermagem
    Educação física
    Ciências biológicas iii
    Ciências biológicas ii
    Ciências biológicas i
    Ciência de alimentos
    Ciência da computação
    Cardiology and cardiovascular medicine
    Cardiac & cardiovascular systems
    Biotecnología
    Antropologia / arqueologia
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