Evidence map›Paper›PMID 40150571›Full record

ArticleChildren (Basel, Switzerland)2025

Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group.

Cristina Pederiva, Federica Galimberti, Manuela Casula, Giuseppe Banderali, Guglielmo Beccuti, Vanessa Bianconi, Giacomo Biasucci, Marta Biolo, Marco Bucci, Paola Sabrina Buonuomo and 34 more

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Article in Children (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

44 authors.

Cristina PederivaClinical Service for Dyslipidaemias, Study and Prevention of Atherosclerosis in Childhood, Paediatrics Unit, ASST-Santi Paolo e Carlo, 20142 Milan, Italy.ORCID 0000-0002-2213-9383
Federica GalimbertiIRCCS MultiMedica, 20099 Sesto San Giovanni, Italy.ORCID 0000-0002-4231-4150
Manuela CasulaEpidemiology and Preventive Pharmacology Service (SEFAP), Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy.ORCID 0000-0002-5124-5361
Giuseppe BanderaliClinical Service for Dyslipidaemias, Study and Prevention of Atherosclerosis in Childhood, Paediatrics Unit, ASST-Santi Paolo e Carlo, 20142 Milan, Italy.
Guglielmo BeccutiDivision of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, 10126 Turin, Italy.ORCID 0000-0003-3163-2361
Vanessa BianconiUnit of Internal Medicine, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy.
Giacomo BiasucciCentre for Paediatric Dyslipidaemias, Paediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.ORCID 0000-0002-7441-9248
Marta BioloDepartment of Medicine DIMED, University of Padova, 35128 Padua, Italy.
Marco BucciInstitute of "Clinica Medica", Department of Medicine and Aging Science, "G. D'Annunzio" University of Chieti, 66100 Chieti, Italy.ORCID 0000-0002-5213-7768
Paola Sabrina BuonuomoRare Disease and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, 00163 Rome, Italy.ORCID 0000-0002-7944-8400
Paolo CalabròDivision of Clinical Cardiology, A.O.R.N. Sant'Anna e San Sebastiano, 81100 Caserta, Italy.ORCID 0000-0002-5018-830X
Stefano CarugoDepartment of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.
Angelo Baldassare CefalùDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90127 Palermo, Italy.
Nadia CitroniCentro Dislipidemie e Aterosclerosi, Ospedale di Trento, APSS-Trento, 38122 Trento, Italy.
Nicholas CocomelloDepartment of Clinical Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-4922-4318
Sergio D'AddatoUO di Medicina Interna Cardiovascolare, Ambulatorio Dislipidemie, Università di Bologna, 40138 Bologna, Italy.ORCID 0000-0001-6631-4342
Simona GattiDepartment of Pediatrics, Polytechnic University of Marche, 60123 Ancona, Italy.
Simonetta GenovesiSchool of Medicine and Surgery, University of Milano-Bicocca, 20126 Milan, Italy.ORCID 0000-0002-4699-4149
Ornella GuardamagnaPaediatric Endocrinology, Department of Public Health and Paediatric Sciences, Turin University, 10126 Turin, Italy.ORCID 0000-0003-3137-5916
Gabriella IannuzzoDepartment of Clinical Medicine and Surgery, University of Naples "Federico II", 80131 Naples, Italy.ORCID 0000-0002-7392-5544
Lorenzo IughettiPediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, 41124 Modena, Italy.ORCID 0000-0003-0370-7872
Giuseppe MandraffinoDepartment of Clinical and Experimental Medicine, Internal Medicine Unit, Lipid Center, University Hospital G. Martino, University of Messina, 98100 Messina, Italy.ORCID 0000-0003-0272-2237
Lorenzo MaroniAmbulatorio Ipertensione Dislipidemie, UO Medicina Generale, ASST Valle Olona, Ospedale di Gallarate, 21013 Gallarate, Italy.
Ilenia MinicocciDepartment of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-9801-4501
Giuliana MombelliCentro Dislipidemie, ASST Grande Ospedale Metropolitano Niguarda, 20162 Milan, Italy.
Tiziana MontalciniDepartment of Experimental and Clinical Medicine, University Magna Grecia, 88100 Catanzaro, Italy.ORCID 0000-0001-7048-5830
Sara MorigliaInternal and Geriatric Medicine, University Politecnica delle Marche, 60126 Ancona, Italy.
Sandro MuntoniDepartment of Biomedical Science, University of Cagliari, 09124 Cagliari, Italy.ORCID 0000-0002-7825-6319
Fabio NascimbeniDepartment of Maternal-Infantile and Adult Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Angelina PassaroDepartment of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.
Fabio PellegattaCentro per lo Studio dell'Aterosclerosi, Ospedale E Bassini, 20092 Cinisello Balsamo, Italy.
Livia PisciottaDepartment of internal Medicine, University of Genoa, 16132 Genoa, Italy.ORCID 0000-0001-7080-9807
Elena SaniDivision of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, 37134 Verona, Italy.
Francesco SbranaLipoapheresis Unit, Reference Center for Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", 56124 Pisa, Italy.ORCID 0000-0003-4607-0373
Roberto ScicaliDepartment of Clinical and Experimental Medicine, Internal Medicine, Garibaldi-Nesima Hospital, University of Catania, 95122 Catania, Italy.ORCID 0000-0002-7023-3649
Patrizia SuppressaDepartment of Medicine and Surgery, LUM University Giuseppe Degennaro, 70010 Casamassima, Italy.ORCID 0000-0002-3146-9173
José Pablo WerbaAtherosclerosis Prevention Unit, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.
Maria Grazia ZentiDiabetes and Metabolism Unit, Pederzoli Hospital, Casa di Cura Privata, 37019 Peschiera del Garda, Italy.ORCID 0000-0002-2963-3990
Marcello ArcaAO Policlinico Umberto I, 00161 Rome, Italy.ORCID 0000-0003-3786-0883
Maurizio AvernaDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90127 Palermo, Italy.
Sebastiano CalandraDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Alberico Luigi CatapanoIRCCS MultiMedica, 20099 Sesto San Giovanni, Italy.ORCID 0000-0002-7593-2094
Patrizia TarugiDepartment of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0001-6864-7853
Maria Elena CapraCentre for Paediatric Dyslipidaemias, Paediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.ORCID 0000-0003-0848-5228

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAwareness, diagnosis, and treatment of familial hypercholesterolemia (FH) starting from childhood are a cornerstone of cardiovascular disease prevention. The LIPIGEN Paediatric Group, a network of specialised centres for the diagnosis and management of familial genetic dyslipidemia, is an active part of this mission. MATERIALS AND

methodsThis is the second exploratory survey organised within the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) paediatric centres. A digital questionnaire consisting of 16 questions was proposed to the principal investigators of 35 LIPIGEN centres in September 2023. We analysed the main FH screening strategies implemented in Italy, which are the referral characteristics to the lipid clinics and clinical and biochemical criteria considered to diagnose FH in paediatric patients.

resultsCentres frequently reported conducting cascade screening (88.6%) and reverse screening (57.1%), whereas 28.6% of respondents indicated using selective screening and only 5.7% reported employing child-parent screening. We documented a detailed biochemical characterisation of paediatric patients (62.9% of respondents usually perform full lipoprotein profile and 80% determine lipoprotein(a) for each patient) and a high percentage of genetic analysis (82.9%). We have also highlighted a quite low awareness of FH as a genetic condition involving paediatric patients among primary care paediatricians and general practitioners.

conclusionsThe results of our survey show that specialised lipid centres usually have good diagnostic competence when dealing with paediatric patients with hypercholesterolemia. However, FH awareness and the importance of early diagnosis and treatment initiation in childhood still need to be further improved.

Indexed as

diagnosisfamilial hypercholesterolemiapaediatricscreeningsurvey

Identifiers

PMID40150571
PMCPMC11941534

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