Evidence map›Paper›PMID 39815424›Full record

ArticleJournal of paediatrics and child health2025

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.

Dilhara Gamage, Kerryn Chisholm, Tatjana Kilo, Siew Ean Ooi, Shubha Srinivasan

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

Article in Journal of paediatrics and child health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Dilhara GamageInstitute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0001-5413-116X
Kerryn ChisholmDepartment of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Tatjana KiloDepartment of Hematology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Siew Ean OoiDepartment of Hematology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Shubha SrinivasanInstitute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Funding

The University of Sydney agreement via the Council of Australian University LibrariansThe University of Sydney, as part of the Wiley
6 · The paper itself

Abstract

aimsSitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications. We reviewed the presentation and management of patients with sitosterolemia in our clinic.

methodWe report 4 children aged 18 months to 18 years with variable manifestations from xanthomas to haemolytic anaemia who were subsequently confirmed to have sitosterolemia on genetic testing.

resultsOne patient presented with xanthomas, two patients with haematological manifestations and the other with an abnormal lipid profile. All patients had a strong family history of lipid disorders and cardiovascular disease at a young age. All patients had confirmatory genetic testing and were managed with dietary adjustments and ezetimibe resulting in improvement of lipid and haematological profiles.

conclusionSitosterolemia is a likely underdiagnosed lipid disorder due to variable phenotype and specialised genetic and biochemical diagnostic tests. Early diagnosis and treatment fully reverse the clinical manifestations and associated complications.

Indexed as

HypercholesterolemiaIntestinal DiseasesLipid Metabolism, Inborn ErrorsPhytosterolsAdolescentAustraliaChildChild, PreschoolEzetimibeHumansInfantTertiary Care CentersEzetimibePhytosterolsezetimibeplant sterolssitosterolaemia

Identifiers

PMID39815424
PMCPMC12003943

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.