Author, as appears in the article.: Ibarretxe D; Rodríguez-Borjabad C; Feliu A; Bilbao J; Masana L; Plana N

Department: Medicina i Cirurgia

URV's Author/s: Feliu Rovira, Albert / Ibarretxe Gerediaga, Daiana / Masana Marín, Luis / Plana Gil, Núria

Keywords: Services Reverse cascade screening Opportunistic screening Management Guidelines Familial hypercholesterolemia Direct cascade screening Diagnosis Cost-effectiveness Children fh Adolescents 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 albert.feliu@urv.cat nuria.plana@urv.cat luis.masana@urv.cat

Author identifier: 0000-0002-4231-7618 0000-0002-0789-4954

Record's date: 2023-02-19

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: http://repositori.urv.cat/ca/proteccio-de-dades/

Papper original source: Atherosclerosis. 278 210-216

APA: Ibarretxe D; Rodríguez-Borjabad C; Feliu A; Bilbao J; Masana L; Plana N (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