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Updated: Jun 12, 2025

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Machine-Learning Assisted Screening with FIND FH for Familial Hypercholesterolemia among Youth.

Kerrilynn C Hennessey1, Mary P McGowan2, Hanyuan Shi1

  • 1Section of Cardiovascular Medicine, Heart and Vascular Center, Dartmouth Health, Lebanon, NH.

The Journal of Pediatrics
|May 14, 2025
PubMed
Summary

Universal lipid screening for familial hypercholesterolemia in children is recommended but seldom done. A new machine learning model (FIND FH) was clinically used to identify at-risk youth, with outreach efforts showing positive results.

Keywords:
artificial intelligencegenetic dyslipidemiamachine learningpediatric lipid screeningprevention

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Area of Science:

  • Pediatrics
  • Cardiology
  • Artificial Intelligence

Background:

  • Familial hypercholesterolemia (FH) is an underdiagnosed genetic condition.
  • Current universal lipid screening guidelines for children are not widely implemented.
  • Early identification of FH is crucial for cardiovascular disease prevention.

Purpose of the Study:

  • To report the first clinical application of a novel machine learning model, FIND FH.
  • To assess the model's effectiveness in identifying youth at high risk for familial hypercholesterolemia.
  • To evaluate the outcomes of associated patient outreach initiatives.

Main Methods:

  • Utilized a novel machine learning model (FIND FH) for risk stratification.
  • Implemented clinical screening based on model predictions.
  • Conducted targeted outreach to identified high-risk individuals.

Main Results:

  • The FIND FH model was successfully deployed in a clinical setting.
  • The model identified a cohort of youth at increased risk for FH.
  • Outreach efforts facilitated further evaluation and management for identified patients.

Conclusions:

  • Machine learning offers a promising approach to overcome barriers in pediatric FH screening.
  • Clinical implementation of the FIND FH model can aid in identifying at-risk children.
  • Targeted outreach is essential for connecting high-risk youth with necessary care.