Articles producció científica> Medicina i Cirurgia

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

  • Identification data

    Identifier: imarina:6389511
    Authors:
    Ibarretxe, DaianaRodriguez-Borjabad, CeliaFeliu, AlbertAngel Bilbao, JoseMasana, LluisPlana, Nuria
    Abstract:
    © 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.
  • Others:

    Author, as appears in the article.: Ibarretxe, Daiana; Rodriguez-Borjabad, Celia; Feliu, Albert; Angel Bilbao, Jose; Masana, Lluis; Plana, Nuria
    Department: Medicina i Cirurgia
    URV's Author/s: Feliu Rovira, Albert / Ibarretxe Gerediaga, Daiana / Masana Marín, Luis / Plana Gil, Núria / Rodríguez Borjabad, Cèlia
    Keywords: 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
    Abstract: © 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.
    Thematic Areas: 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
    licence for use: https://creativecommons.org/licenses/by/3.0/es/
    ISSN: 00219150
    Author's mail: daiana.ibarretxe@urv.cat luis.masana@urv.cat celia.rodriguez@urv.cat albert.feliu@urv.cat celia.rodriguez@urv.cat
    Author identifier: 0000-0002-0789-4954 0000-0001-8160-3716 0000-0001-8160-3716
    Record's date: 2024-08-10
    Papper version: info:eu-repo/semantics/acceptedVersion
    Link to the original source: https://www.atherosclerosis-journal.com/article/S0021-9150(18)31418-7/fulltext
    Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
    Papper original source: Atherosclerosis. 278 210-216
    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
    Article's DOI: 10.1016/j.atherosclerosis.2018.09.039
    Entity: Universitat Rovira i Virgili
    Journal publication year: 2018
    Publication Type: Journal Publications
  • Keywords:

    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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