Evidence map›Paper›PMID 32292609›Full record

ArticleCase reports in endocrinology2020

Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous

Masako Ueda, Anna Wolska, Frances M Burke, Maria Escobar, Laura Walters, Dusanka Lalic, Robert A Hegele, Alan T Remaley, Daniel J Rader, Richard L Dunbar

Open access · goldAbstract readCase Reports
In one paragraph

Article in Case reports in endocrinology, 2020. 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
0.6field-weighted citation impact, top 30% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Plasmapheresis for Hypertriglyceridemia-induced Acute Pancreatitis: A Systematic Review and Meta-summary of Case Reports.Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine · 2025
    Review
  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

10 authors at 6 institutions in 2 countries.

Masako UedaDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID https://orcid.org/0000-0002-4429-8924
Anna WolskaLipoprotein Metabolism Laboratory, NHLBI, National Institutes of Health, Bethesda, MD, USA.
Frances M BurkeDivision of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Health System, Philadelphia, PA, USA.
Maria EscobarDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Laura WaltersDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Dusanka LalicDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Robert A HegeleDepartment of Medicine, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Alan T RemaleyLipoprotein Metabolism Laboratory, NHLBI, National Institutes of Health, Bethesda, MD, USA.ORCID https://orcid.org/0000-0003-2473-5549
Daniel J RaderDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Richard L DunbarDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID https://orcid.org/0000-0002-7059-4794
University of Pennsylvania · USNational Institutes of Health · USNewron Pharmaceuticals (United States) · USTranslational Therapeutics (United States) · USUniversity of Pennsylvania Health System · USWestern University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAmong many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis. Among the known causal genes for FCS, mutations in

objectiveWe present the challenging care of a 43-year-old man with FCS with apoC-II deficiency and the results of two types of TPE and of investigational TG-lowering biologic therapies.

resultsThe patient's lipid profile was consistent with FCS. A novel homozygous variant was identified in

conclusionsOur case demonstrates the importance of delineating and defining the underlying etiology of a rare disorder to optimize therapy and to minimize unfavorable outcomes.

Identifiers

PMID32292609
PMCPMC7149354
OpenAlexW3013142317

What Socratic holds

Textmetadata
LicenceCC BY
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.