ArticleFrontiers in public health2017
Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management.
Article in Frontiers in public health, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Prevalence of Familial Hypercholesterolemia in Pakistan: A Pooled Analysis of 1.5 Million Individuals and Comparison with Other Countries of the Region.Global heart · 2025Pooled it
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.Journal of atherosclerosis and thrombosis · 2026Article
- The High Price of Interrupted Follow-Up: Catastrophic Progression of Homozygous Familial Hypercholesterolemia-A Case Report and Literature Review.Clinical case reports · 2026Article
- "Would you want to know?" Questions of utility and responsibility in Italian laypersons' preferences about genetic risk communication.Journal of community genetics · 2025Article
- Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia.Journal of pediatric endocrinology & metabolism : JPEM · 2025Review
- A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality.PEC innovation · 2025Article
- Clinical Management of Familial Hypercholesterolemia in Children.Current pediatric reviews · 2025Review
- The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.Medicina (Kaunas, Lithuania) · 2024Article
- Health care utilization and behavior changes after workplace genetic testing at a large US health care system.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- A Japanese Woman with Polygenic Familial Hypercholesteremia Who Exhibited Trivial Atherosclerosis.Internal medicine (Tokyo, Japan) · 2024Article
- Current Landscape of Gene Therapy for the Treatment of Cardiovascular Disorders.Current gene therapy · 2024Review
- International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.Nature reviews. Cardiology · 2023Review
- Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.Diagnostics (Basel, Switzerland) · 2023Article
- Acute coronary syndrome in an 8-year-old child with familial hypercholesterolemia: a case report.Journal of medical case reports · 2022Article
- Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation.JMIR human factors · 2022Article
- Developing a Hybrid Risk Assessment Tool for Familial Hypercholesterolemia: A Machine Learning Study of Chinese Arteriosclerotic Cardiovascular Disease Patients.Frontiers in cardiovascular medicine · 2022Article
- Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia.Internal medicine (Tokyo, Japan) · 2022Article
- A new phenotypic classification system for dyslipidemias based on the standard lipid panel.Lipids in health and disease · 2021Article
- Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry.PloS one · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways.
methodsWe performed a systematic review of the literature; inclusion criteria were English or Italian guidelines focusing on genetic testing. The guidelines were included and evaluated for their content and development process using the Appraisal of Guidelines for Research and Evaluation II instrument.
resultsTen guidelines were considered eligible, and all were judged to be of good quality, with slight differences among them. The most common indications for performing genetic tests were high levels of cholesterol, or physical findings consistent with lipid disorder, in the subject or in the family history. Subsequent screening of family members was indicated when a mutation had been identified in the index patient. Regarding patient management, the various guidelines agreed that intensive treatment with lipid-lowering medications should begin as quickly as possible and that lifestyle modifications should be an integral part of the therapy.
conclusionSince the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.