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Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Engin Kose1, Melis Kose1, Sureyya Ipek Ozturk2

  • 1Department of Pediatric Metabolism and Nutrition, Katip Celebi University Faculty of Medicine, Izmir, Turkey.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|August 24, 2020
PubMed

Insights

Screening children for familial hypercholesterolemia (FH) is vital for early detection and treatment. Lipid-lowering treatments, including statins, are effective, but challenges in treatment initiation persist.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Familial hypercholesterolemia (FH) is a common genetic disorder leading to premature coronary artery disease.
  • Early detection and management of FH are crucial for preventing cardiovascular events.
  • A national lipid screening program for school-age children was established in Turkey in 2016.

Purpose of the Study:

  • To evaluate the effectiveness of a lipid screening program for identifying children with FH.
  • To assess the efficacy of lipid-lowering treatments, including diet and statins, in pediatric FH patients.
  • To identify challenges associated with initiating and adhering to FH treatments in children.

Main Methods:

  • Retrospective evaluation of pediatric patients diagnosed with FH.
  • Assessment of lipid profiles following dietary interventions and statin therapy.
  • Analysis of cascade screening results in families of diagnosed children.

Main Results:

  • Fifty-one children with FH (mean age 9.8 years) were included; all had heterozygous LDLR gene mutations.
  • Dietary intervention led to a 14.5% decrease in LDL-C levels.
  • Statin treatment reduced mean LDL-C from 204.1 mg/dL to 137.0 mg/dL, with 15.7% of parents refusing statin initiation.
  • Cascade screening identified FH in 13.7% of parents and led to new treatment for relatives.

Conclusions:

  • Pediatric FH screening is essential for early diagnosis in children and their families.
  • Diet and statins effectively lower LDL-C in children with FH.
  • Significant resistance to initiating statin therapy was observed, highlighting a key challenge in management.

Keywords:
childrenfamilial hypercholesterolemialow-fat dietstatin

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