ArticleIndian journal of pediatrics2018
Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
Article in Indian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- Screening for Familial Hypercholesterolemia in Childhood: An Overview of Current Practices Around the World.Children (Basel, Switzerland) · 2025Review
- Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journal · 2025Article
- Familial hypercholesterolemia.Indian heart journal · 2024Review
- Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.Health technology assessment (Winchester, England) · 2023Article
- Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting.PloS one · 2022Article
- Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.Journal of atherosclerosis and thrombosis · 2021Review
- Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia.Pediatric endocrinology, diabetes, and metabolism · 2021Article
- A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.Journal of personalized medicine · 2020Review
- Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review.Journal of personalized medicine · 2019Review
- Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States.Journal of personalized medicine · 2019Article
- Familial Hypercholesterolemia: Nip the Evil in the Bud.Indian journal of pediatrics · 2018Article
- Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?Indian heart journalReview
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4 authors at 1 institution in 1 country.
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Abstract
objectiveFamilial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol since birth, resulting in premature atherosclerosis and coronary artery disease (CAD). Cascade screening of children and family members of proven FH individuals can identify more subjects who have high LDL cholesterol or the family mutation and appropriate intervention can reduce their risk of atherosclerosis and prevent its complications.
methodsCascade screening by molecular testing, was carried out in 133 family members, comprising 24 children, of 31 probands with FH having a pathogenic mutation in LDLR/ApoB gene. Lipid profiles were obtained in 44 family members including 11 children.
resultsOf 133 family members tested, 88 (66.1%) were identified to carry the family mutation. Twelve of these were children below 18 y of age and 76 were adults. CAD was present in 15 (11.2%) family members and 63(47.4%) family members, including nine children, were already on Lipid Lowering Therapy.
conclusionsCascade screening led to identification of 88 new cases, with a pathogenic mutation, who were at a very high risk of developing premature CAD. The authors identified 12 children with family specific mutation, out of which 9 were initiated on low dose statin therapy. Four homozygous children were treated with high dose statins because of substantially increased risk of CAD. Cascade screening, therefore, proved to be a successful initiative towards primary prevention of CAD in India.
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