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Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey

Cristina Pederiva1, Marta Gazzotti2, Marcello Arca3,4

  • 1Clinical Service for Dyslipidaemias, Study and Prevention of Atherosclerosis in Childhood, Paediatrics Unit, ASST-Santi Paolo e Carlo, 20142 Milan, Italy.

Nutrients
|August 12, 2023
PubMed

Insights

Early detection and treatment of familial hypercholesterolemia (FH) in children are crucial. This survey reveals Italian centers

Area of Science:

  • Cardiovascular Medicine
  • Pediatric Endocrinology
  • Genetics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL cholesterol levels from birth.
  • Early detection and management of pediatric FH are vital to prevent premature cardiovascular disease.
  • The LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group coordinates efforts in Italy.

Purpose of the Study:

  • To explore the current clinical management and treatment strategies for pediatric patients with suspected FH in Italy.
  • To assess the utilization of nutritional, nutraceutical, and pharmacological interventions across Italian lipid clinics.

Main Methods:

  • An exploratory survey conducted in October 2021 among Italian lipid clinics within the LIPIGEN Paediatric Group.
  • A 20-question digital questionnaire focused on nutritional, nutraceutical, and pharmacological treatments for children and adolescents with FH.
  • Data collected from principal investigators of 30 LIPIGEN centers, with responses from 24 (children) and 30 (adolescents).

Main Results:

  • Lipid-lowering nutritional treatment was the initial approach for 66.7% of children and 73.3% of adolescents.
  • Nutraceuticals were considered as a supplementary approach in 41.7% of centers for children and 50.0% for adolescents.
  • Lipid-lowering drug therapy, primarily statins, was recommended in most centers (91.7% for children, 80.0% for adolescents).

Conclusions:

  • Significant variations exist in the treatment of pediatric FH across Italian centers.
  • The overall approach aligns with European Atherosclerosis Society (EAS) recommendations for pediatric FH.
  • The survey highlights the need for enhanced collaboration and a future consensus document to standardize FH management in Italy.

Keywords:
familial hypercholesterolemiamanagementpaediatricpathology registersurvey

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