Evidence map›Paper›PMID 40149441›Full record

ArticleGenes2025

Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (

Elise A Ferreira, Machteld M Oud, Saskia N van der Crabben, Miranda Versloot, Susan M I Goorden, Clara D M van Karnebeek, Jeffrey Kroon, Mirjam Langeveld

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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. Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026
    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

8 authors.

Elise A FerreiraDepartment of Paediatrics, Emma Children's Hospital, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-9397-942X
Machteld M OudUnited for Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0003-4864-9346
Saskia N van der CrabbenDepartment of Human Genetics, Amsterdam University Medical Centres, Amsterdam Reproduction & Development, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-8619-1511
Miranda VerslootDepartment of Experimental Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Susan M I GoordenCenter for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
Clara D M van KarnebeekDepartment of Paediatrics, Emma Children's Hospital, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Jeffrey KroonDepartment of Experimental Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-9983-6614
Mirjam LangeveldDepartment of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-9934-6831

Funding

Hartstichting 03-004-2021-T045Metakids UMD-ZOE-2022-012
6 · The paper itself

Abstract

backgroundPersistent splenomegaly, often an incidental finding, can originate from a number of inherited metabolic disorders (IMDs). Variants of

methodsA case study (deep phenotyping, genetic and FACS analysis) and literature study was conducted.

resultsThe index patient, with a family history of early-onset cardiovascular disease, presented with splenic infarctions in a grossly enlarged spleen. The identified genetic cause was homozygosity for two

conclusionsInherited dyslipidemic splenomegaly caused by disruptive

Indexed as

Apolipoproteins EDyslipidemiasSplenomegalyFemaleHumansMacrophagesMalePedigreeApoE protein, humanApolipoproteins Eapolipoprotein Edysbetalipoproteinemiainherited lipemic splenomegalyN-palmitoyl-O-phosphocholine-serine (PPCS)splenomegaly

Identifiers

PMID40149441
PMCPMC11942003

What OpenQuestion holds

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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 OpenQuestion graph.