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Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected

Nitika Setia1, Renu Saxena2, J P S Sawhney3

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India. nitikasetia@gmail.com.

Indian Journal of Pediatrics
|February 17, 2018
PubMed

Insights

Cascade screening for Familial Hypercholesterolemia (FH) identified 88 mutation carriers, including 12 children. This approach effectively detects individuals at high risk for coronary artery disease (CAD), enabling early intervention and primary prevention.

Area of Science:

  • Cardiovascular Genetics
  • Lipid Metabolism Disorders
  • Preventive Cardiology

Background:

  • Familial Hypercholesterolemia (FH) is an inherited lipid disorder causing early atherosclerosis and coronary artery disease (CAD).
  • Identifying FH mutations enables early intervention to mitigate cardiovascular risks.

Purpose of the Study:

  • To evaluate the effectiveness of cascade screening in identifying FH mutations within families.
  • To assess the prevalence of FH mutations and associated CAD risk in relatives of probands.
  • To determine the impact of early detection and intervention on preventing premature CAD.

Main Methods:

  • Molecular testing for pathogenic LDLR/ApoB gene mutations was performed in 133 family members of 31 FH probands.
  • Lipid profiles were analyzed in 44 family members, including 11 children.
  • Cascade screening involved genetic analysis and clinical assessment of relatives.

Main Results:

  • A high prevalence of FH mutations was found, with 88 out of 133 (66.1%) family members identified as carriers.
  • Twelve children below 18 years carried the FH mutation.
  • Coronary artery disease (CAD) was present in 11.2% of screened family members, and 47.4% were already on lipid-lowering therapy.

Conclusions:

  • Cascade screening is a successful strategy for identifying individuals with FH mutations and high risk for premature CAD.
  • Early detection of FH in children allows for timely initiation of statin therapy, crucial for primary prevention of CAD.
  • This approach facilitates primary prevention of CAD in affected families, particularly in the Indian population.
Abstract

Keywords:
Cascade screeningChildrenFamilial hypercholesterolemiaGenetic testing

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