Evidence map›Paper›PMID 38969064›Full record

ArticleJournal of lipid research2024

Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.

Frieda Bardey, Lorenz Rieck, Dominik Spira, Winfried März, Priska Binner, Stefanie Schwab, Marcus E Kleber, Magdalena Danyel, Rasmus Barkowski, Thomas Bobbert and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of lipid research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. [Laboratory diagnostics of lipid metabolism disorders].Deutsche medizinische Wochenschrift (1946) · 2023
    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

14 authors.

Frieda BardeyCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Lorenz RieckCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Dominik SpiraCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Winfried MärzSynlab Academy, P5, 7, 68167 Mannheim, Germany; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Auenbrugger Platz 15, 8036 Graz.
Priska BinnerSynlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
Stefanie SchwabSynlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
Marcus E KleberVth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany; Synlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
Magdalena DanyelBerlin Institute of Health (BIH), Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.
Rasmus BarkowskiCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Thomas BobbertCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Joachim SprangerCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Elisabeth Steinhagen-ThiessenCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
Ilja DemuthCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, BCRT - Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany. Electronic address: ilja.demuth@charite.de.
Ursula KassnerCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSevere hypertriglyceridemia (HTG) has predominantly multifactorial causes (MCS). Yet a small subset of patients have the monogenetic form (FCS). It remains a challenge to distinguish patients clinically, since decompensated MCS might mimic FCS´s severity. Aim of the current study was to determine clinical criteria that could sufficiently distinguish both forms as well as to apply the FCS score proposed by Moulin and colleagues.

methodsWe retrospectively studied 72 patients who presented with severe HTG in our clinic during a time span of seven years and received genetic testing. We classified genetic variants (ACMG-criteria), followed by genetic categorization into MCS or FCS. Clinical data were gathered from the medical records and the FCS score was calculated for each patient.

resultsMolecular genetic screening revealed eight FCS patients and 64 MCS patients. Altogether, we found 13 pathogenic variants of which four have not been described before. The FCS patients showed a significantly higher median triglyceride level compared to the MCS. The FCS score yielded a sensitivity of 75% and a specificity of 93.7% in our cohort, and significantly differentiated between the FCS and MCS group (p<0.001).

conclusionsIn our cohort we identified several variables that significantly differentiated FCS from MCS. The FCS score performed similar to the original study by Moulin, thereby further validating the discriminatory power of the FCS score in an independent cohort.

Indexed as

Familial Chylomicronemia SyndromeHypertriglyceridemiaLipoprotein lipase deficiencymultifactorial chylomicronemiatriglycerides

Identifiers

PMID38969064
PMCPMC11913797

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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.