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Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype

Publicated to:Clinical Chemistry. 69 (2): 140-148 - 2023-02-01 69(2), DOI: 10.1093/clinchem/hvac213

Authors: Bea AM; Cenarro A; Marco-Bened V; Laclaustra M; Martn C; Ibarretxe D; Pint X; Arrobas T; Vials C; Civeira F; Olmos S

Affiliations

Aragon Institute of Engineering Research (I3A), Universidad de Zaragoza, Zaragoza, Spain. - Author
Biofisika Institute (UPV/EHU, CSIC), Leioa, Spain. - Author
Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. - Author
Departamento de Medicina, Psiquiatría y Dermatología, Universidad de Zaragoza, Zaragoza, Spain. - Author
Department of Biochemistry and Molecular Biology, Universidad del País Vasco UPV/EHU, Bilbao, Spain. - Author
Endocrinology Department, Hospital Clínic de Barcelona, Barcelona, Spain. - Author
Fundación Biofisika Bizkaia, Leioa, Spain. - Author
Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Zaragoza, Spain. - Author
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. - Author
Laboratorio de Nutrición y RCV, Laboratorio de Bioquímica Clínica, Hospital Virgen Macarena, Sevilla, Spain. - Author
Molecular Research Laboratory, Instituto Aragones de Ciencias de la Salud (IACS), Zaragoza, Spain. - Author
Unidad de Lípidos, Servicio de Medicina Interna, Hospital Universitario de Bellvitge-Idibell, Universidad de Barcelona, CiberObn, Barcelona, Spain. - Author
Unitat de Medicina Vascular i Metabolisme (UVASMET) Hospital Universitari Sant Joan, IISPV, CIBERDEM, Universitat Rovira i Virgili, Reus, Tarragona, Spain. - Author
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Abstract

Familial dysbetalipoproteinemia (FDBL) is a monogenic disease due to variants in APOE with a highly variable phenotype. Current diagnostic lipid-based methods have important limitations. The objective is twofold: to define characteristics of dysbetalipoproteinemia (DBL) based on the analysis of APOE in patients from a lipid unit and in a sample from the general population, and to propose a screening algorithm for FDBL.Lipids and APOE genotype from consecutive unrelated subjects from Miguel Servet University Hospital (MSUH) (n = 3603), subjects from the general population participants of the Aragon Workers' Health Study (AWHS) (n = 4981), and selected subjects from external lipid units (Ext) (n = 390) were used to define DBL criteria and to train and validate a screening tool.Thirty-five subjects from MSUH, 21 subjects from AWHS, and 31 subjects from Ext were APOE2/2 homozygous. The combination of non high-density lipoprotein cholesterol (non-HDLc)/apoB ≥1.7 plus triglycerides/apoB ≥1.35, in mg/dL (non-HDLc [mmol/L]/apolipoprotein B (apoB) [g/L] ≥4.4 and triglycerides [mmol/L]/apoB [g/L] ≥3.5), provided the best diagnostic performance for the identification of subjects with hyperlipidemia and APOE2/2 genotype (sensitivity 100% in the 3 cohorts, and specificity 92.8% [MSUH], 80.9% [AWHS], and 77.6% [Ext]). This improves the performance of previous algorithms. Similar sensitivity and specificity were observed in APOE2/2 subjects receiving lipid-lowering drugs.The combination of non-HDLc/apoB and triglycerides/apoB ratios is a valuable tool to diagnose DBL in patients with hyperlipidemia with or without lipid-lowering drugs. FDBL diagnosis requires DBL and the presence of a compatible APOE genotype. Most adult APOE2/2 subjects express DBL, making FDBL as common as familial hypercholesterolemia in the population.© American Association for Clinical Chemistry 2023. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Keywords
Good health and well-being

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Clinical Chemistry due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position 1/31, thus managing to position itself as a Q1 (Primer Cuartil), in the category Medical Laboratory Technology. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 7.32, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-17, the following number of citations:

  • Scopus: 10
  • Open Alex: 9
  • OpenCitations: 7
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-17:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 17.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 17 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 12.2.
  • The number of mentions on the social network X (formerly Twitter): 20 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
Continuing with the social impact of the work, it is important to emphasize that, due to its content, it can be assigned to the area of interest of ODS 3 - Ensure healthy lives and promote well-being for all at all ages, with a probability of 45% according to the mBERT algorithm developed by Aurora University.