Evidence map›Paper›PMID 41507929›Full record

ArticleOrphanet journal of rare diseases2026

Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.

Ummu Mutlu, Bilger Cavus, Hulya Hacisahinogullari, Gulsah Yenidunya Yalin, Ozlem Soyluk Selcukbiricik, Nurdan Gul, Ayse Kubat Uzum, Kadir Demir, Refik Tanakol

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In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Ummu MutluIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye. ukorkmaz18@gmail.com.ORCID http://orcid.org/0000-0002-5259-7326
Bilger CavusIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Gastroenterohepatology, Istanbul University, Istanbul, Türkiye.
Hulya HacisahinogullariIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.
Gulsah Yenidunya YalinIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.
Ozlem Soyluk SelcukbiricikIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.
Nurdan GulIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.
Ayse Kubat UzumIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.
Kadir DemirIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Gastroenterohepatology, Istanbul University, Istanbul, Türkiye.
Refik TanakolIstanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionGaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. This study aimed to assess liver and spleen stiffness and hepatic steatosis in adult type 1 GD patients receiving ERT, using transient elastography (TE) (Fibroscan®).

methodTwenty-five type 1 GD patients were evaluated pre- and post-ERT. TE findings of GD patients on ERT were compared cross-sectionally with a control group. Liver fibrosis was defined as ≥7 kPa, and significant steatosis was defined as a Controlled Attenuation Parameter (CAP) measurement ≥ 250 dB/min. Associations between TE findings and clinical, metabolic, genetic characteristics, FIB4 (fibrosis 4) and APRI (AST to platelet ratio index) scores, were investigated.

resultsFifty-six percent of GD patients were female, with a median disease duration of 13 years. Post-ERT, body weight (57.3 vs. 63.6 kg, p < 0.001), body mass index (22 vs. 23.8 kg/m

conclusionAlthough ERT improved fibrosis-related parameters, GD patients demonstrated higher liver and spleen stiffness. Elevated ferritin levels, longer disease duration, and delayed initiation of ERT were associated with liver fibrosis. Additionally, increased metabolic syndrome prevalence post-ERT may contribute to the development of hepatic steatosis in this patient population.

Indexed as

Elasticity Imaging TechniquesFatty LiverGaucher DiseaseLiverSpleenAdultCase-Control StudiesCohort StudiesCross-Sectional StudiesEnzyme Replacement TherapyFemaleHumansLiver CirrhosisMaleMiddle Aged

Identifiers

PMID41507929
PMCPMC12781525

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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.