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Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management

Overview of attention for article published in Frontiers in Public Health, September 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

blogs
1 blog
twitter
6 tweeters

Citations

dimensions_citation
23 Dimensions

Readers on

mendeley
95 Mendeley
Title
Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management
Published in
Frontiers in Public Health, September 2017
DOI 10.3389/fpubh.2017.00252
Pubmed ID
Authors

Giuseppe Migliara, Valentina Baccolini, Annalisa Rosso, Elvira D’Andrea, Azzurra Massimi, Paolo Villari, Corrado De Vito

Abstract

Familial 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. We 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. Ten 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. Since the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members via cascade screening and for distinguishing between heterozygous and homozygous individuals, the latter of which require more extreme therapeutic intervention.

Twitter Demographics

The data shown below were collected from the profiles of 6 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 95 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 95 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 20 21%
Student > Bachelor 14 15%
Other 9 9%
Researcher 9 9%
Student > Ph. D. Student 9 9%
Other 16 17%
Unknown 18 19%
Readers by discipline Count As %
Medicine and Dentistry 25 26%
Biochemistry, Genetics and Molecular Biology 24 25%
Nursing and Health Professions 10 11%
Agricultural and Biological Sciences 3 3%
Social Sciences 2 2%
Other 11 12%
Unknown 20 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 November 2019.
All research outputs
#2,067,528
of 16,209,978 outputs
Outputs from Frontiers in Public Health
#440
of 2,585 outputs
Outputs of similar age
#50,245
of 279,467 outputs
Outputs of similar age from Frontiers in Public Health
#15
of 82 outputs
Altmetric has tracked 16,209,978 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,585 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.8. This one has done well, scoring higher than 82% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 279,467 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 82 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.