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. 2025 Feb 26;12(3):288.
doi: 10.3390/children12030288.

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

Cristina Pederiva  1 , Federica Galimberti  2 , Manuela Casula  3 , Giuseppe Banderali  1 , Guglielmo Beccuti  4 , Vanessa Bianconi  5 , Giacomo Biasucci  6   7 , Marta Biolo  8 , Marco Bucci  9 , Paola Sabrina Buonuomo  10 , Paolo Calabrò  11   12 , Stefano Carugo  13   14 , Angelo Baldassare Cefalù  15 , Nadia Citroni  16 , Nicholas Cocomello  17   18 , Sergio D'Addato  19   20 , Simona Gatti  21 , Simonetta Genovesi  22   23 , Ornella Guardamagna  24 , Gabriella Iannuzzo  25 , Lorenzo Iughetti  26 , Giuseppe Mandraffino  27 , Lorenzo Maroni  28 , Ilenia Minicocci  29 , Giuliana Mombelli  30 , Tiziana Montalcini  31 , Sara Moriglia  32   33 , Sandro Muntoni  34   35 , Fabio Nascimbeni  36   37 , Angelina Passaro  38   39 , Fabio Pellegatta  40 , Livia Pisciotta  41   42 , Elena Sani  43 , Francesco Sbrana  44 , Roberto Scicali  45 , Patrizia Suppressa  46 , José Pablo Werba  47 , Maria Grazia Zenti  48 , Marcello Arca  18   29 , Maurizio Averna  15   49 , Sebastiano Calandra  50 , Alberico Luigi Catapano  2   3 , Patrizia Tarugi  51 , Maria Elena Capra  6
Affiliations

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

Cristina Pederiva et al. Children (Basel). .

Abstract

Background: Awareness, 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 methods: This 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.

Results: Centres 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.

Conclusions: The 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.

Keywords: diagnosis; familial hypercholesterolemia; paediatric; screening; survey.

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Conflict of interest statement

The authors declare no conflicts of interest with regard to this work.

Figures

Figure 1
Figure 1
Distribution of the 27 adult lipid clinics that also manage paediatric patients (A) and 8 exclusively paediatric clinics (B) included in the LIPIGEN Paediatric Group. Centres with at least 40 new paediatric patients per year are in red.
Figure 2
Figure 2
Frequency of responses to the question “At your centre, which screening method for familial hypercholesterolaemia is implemented in paediatric age?”.
Figure 3
Figure 3
Frequency of responses to the question “At your centre, what biochemical/genetic parameters are required for the detection of familial hypercholesterolaemia?”.
See this image and copyright information in PMC

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