Evidence mapPaperPMID 38540356Full record

ReviewGenes2024

Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia.

Hayato Tada, Masa-Aki Kawashiri, Atsushi Nohara, Tomoko Sekiya, Atsushi Watanabe, Masayuki Takamura

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
8.6field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 1 country.

Hayato TadaDivision of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan.ORCID 0000-0002-3357-1809
Masa-Aki KawashiriDepartment of Internal Medicine, Kaga Medical Center, Kaga 922-8522, Japan.
Atsushi NoharaDepartment of Clinical Genetics, Ishikawa Prefectural Central Hospital, Kanazawa 920-8530, Japan.ORCID 0000-0002-2586-5727
Tomoko SekiyaDivision of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8641, Japan.
Atsushi WatanabeDivision of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8641, Japan.
Masayuki TakamuraDivision of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan.
Kanazawa University · JPKanazawa University Hospital · JPIshikawa Prefectural Central Hospital · JPShiga Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum low-density lipoprotein levels (LDL). Genetic counseling and genetic testing for FH is useful for its diagnosis, risk stratification, and motivation for further LDL-lowering treatments. In this study, we summarize the epidemiology of FH based on numerous genetic studies, including its pathogenic variants, genotype-phenotype correlation, prognostic factors, screening, and usefulness of genetic counseling and genetic testing. Due to the variety of treatments available for this common Mendelian disease, genetic counseling and genetic testing for FH should be implemented in daily clinical practice.

Indexed as

Coronary Artery DiseaseHyperlipoproteinemia Type IICholesterol, LDLGenetic CounselingGenetic TestingHumansCholesterol, LDLfamilial hypercholesterolemiagenetic counselinggeneticsgenetic testingLDL

Identifiers

PMID38540356
PMCPMC10970256
OpenAlexW4392168598

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.