Evidence map›Paper›PMID 36769678›Full record

ArticleJournal of clinical medicine2023

Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

Andrea Aparicio, Francisco Villazón, Lorena Suárez-Gutiérrez, Juan Gómez, Ceferino Martínez-Faedo, Edelmiro Méndez-Torre, Pablo Avanzas, Rut Álvarez-Velasco, Elías Cuesta-Llavona, Claudia García-Lago and 3 more

Abstract read
In one paragraph

Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

13 authors.

Andrea AparicioÁrea del Corazón, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.
Francisco VillazónServicio de Endocrinología y Nutrición, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.
Lorena Suárez-GutiérrezServicio de Endocrinología y Nutrición, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.
Juan GómezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.ORCID 0000-0002-3318-4649
Ceferino Martínez-FaedoServicio de Endocrinología y Nutrición, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.
Edelmiro Méndez-TorreServicio de Endocrinología y Nutrición, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.ORCID 0000-0002-9548-7821
Pablo AvanzasÁrea del Corazón, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.ORCID 0000-0002-4958-6108
Rut Álvarez-VelascoÁrea del Corazón, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.ORCID 0000-0002-2837-7374
Elías Cuesta-LlavonaInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.ORCID 0000-0002-0924-0962
Claudia García-LagoInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
David NeuhalfenMedicine Department, Universidad de Oviedo, 33003 Oviedo, Spain.
Eliecer CotoInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.ORCID 0000-0002-8649-9150
Rebeca LorcaÁrea del Corazón, Hospital Universitario Central Asturias (HUCA), 33011 Oviedo, Spain.ORCID 0000-0002-7803-4011

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it still is severely underdiagnosed. Initiating lipid-lowering therapy (LLT) in FH patients early in life can substantially reduce their ASCVD risk. As a result, identifying FH is of the utmost importance. The increasing availability of genetic testing may be useful in this regard. We aimed to evaluate the genetic profiles, clinical characteristics, and gender differences between the first consecutive patients referred for genetic testing with FH clinical suspicion in our institution (a Spanish cohort). Clinical information was reviewed, and all participants were sequenced for the main known genes related to FH:

Indexed as

atherosclerotic cardiovascular disease (ASCVD)cardiovascular preventionfamilial hypercholesterolemia (FH)genetic testing

Identifiers

PMID36769678
PMCPMC9917940

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Registered trials

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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.