Evidence map›Paper›PMID 38425725›Full record

ArticleEuropean heart journal. Case reports2024

A case report of heterozygous familial hypercholesterolaemia with

Mohamad Abu Zar Abdul-Halim, Hasidah Abdul-Hamid, Noorhida Baharudin, Mohamed-Syarif Mohamed-Yassin, Sazzli Shahlan Kasim, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European heart journal. Case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
2.3field-weighted citation impact, top 14% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 2 institutions in 2 countries.

Mohamad Abu Zar Abdul-HalimDepartment of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.
Hasidah Abdul-HamidDepartment of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.ORCID https://orcid.org/0000-0002-1642-0427
Noorhida BaharudinDepartment of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.ORCID https://orcid.org/0000-0002-8188-4148
Mohamed-Syarif Mohamed-YassinDepartment of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.ORCID https://orcid.org/0000-0003-3654-2146
Sazzli Shahlan KasimCardio Vascular and Lungs Research Institute (CaVaLRI), Hospital Al-Sultan Abdullah, Universiti Teknologi MARA, 42300 Bandar Puncak Alam, Selangor, Malaysia.ORCID https://orcid.org/0000-0002-2236-517X
Hapizah NawawiInstitute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.ORCID https://orcid.org/0000-0003-4462-8484
Nadeem QureshiCentre of Academic Primary Care, School of Medicine, Faculty of Medicine and Health Sciences, University of Nottingham, NG7 2UH Nottingham, UK.ORCID https://orcid.org/0000-0003-4909-0644
Anis Safura RamliDepartment of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.ORCID https://orcid.org/0000-0002-9517-1413
Universiti Teknologi MARA · MYUniversity of Nottingham · GB

Funding

Medical Research Council MR/T017384/1
6 · The paper itself

Abstract

Background: Familial hypercholesterolaemia (FH) is an autosomal dominant genetic condition predominantly caused by the low-density lipoprotein receptor ( Case summary: This is the case of a 54-year-old Malay woman with genetically confirmed FH complicated by premature coronary artery disease (PCAD). She was clinically diagnosed in primary care at 52 years old, fulfilling the Simon Broome Criteria (possible FH), Dutch Lipid Clinic Criteria (score of 8: probable FH), and Familial Hypercholesterolaemia Case Ascertainment Tool (relative risk score of 9.51). Subsequently, she was confirmed to have a heterozygous Discussion: Familial hypercholesterolaemia can be clinically diagnosed in primary care to identify those who may require genetic testing. Multidisciplinary care focuses on improving identification, cascade screening, and management of FH, which is vital to improving prognosis and ultimately preventing PCAD.

Indexed as

Case reportFamilial hypercholesterolaemiaHeterozygousLDLR gene mutationMultidisciplinary managementPremature coronary artery diseasePrimary care

Identifiers

PMID38425725
PMCPMC10903170
OpenAlexW4391318113

What Socratic holds

Textmetadata
LicenceCC BY-NC
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.