ArticleJournal of inherited metabolic disease2010
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 62 citations in OpenAlex.
- A retrospective observational study: are gallstone patients aging, or are the elderly more susceptible to gallstones?BMC gastroenterology · 2026Observational
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine.Frontiers in medicine · 2025Article
- Insight into the mechanism of gallstone disease by proteomic and metaproteomic characterization of human bile.Frontiers in microbiology · 2023Article
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Non-immune Hemolysis in Gaucher Disease and Review of the Literature.Rambam Maimonides medical journal · 2021Article
- Gaucher disease: Basic and translational science needs for more complete therapy and management.Molecular genetics and metabolism · 2021Review
- Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.JIMD reports · 2021Article
- Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.Autopsy & case reports · 2021Article
- Liver involvement in patients with Gaucher disease types I and III.Molecular genetics and metabolism reports · 2020Article
- Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.Orphanet journal of rare diseases · 2019Review
- Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.Iranian journal of child neurology · 2019Review
- A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher's Disease with Diffusion-Weighted MRI Findings.The Malaysian journal of medical sciences : MJMS · 2017Article
- A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.International journal of molecular sciences · 2017Review
- Glucosylsphingosine is a key biomarker of Gaucher disease.American journal of hematology · 2016Article
- Case report of cholelithiasis in a patient with type 1 Gaucher disease.International journal of surgery case reports · 2016Article
- Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Pediatric endocrinology reviews : PER · 2014Review
- Gaucher disease.Journal of clinical and experimental hepatology · 2014Review
- Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.Journal of inherited metabolic disease · 2013Article
- Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.Critical reviews in oncogenesis · 2013Review
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundIn Gaucher disease (GD), lysosomal glucocerebrosidase deficiency results in glucosylceramide accumulation in macrophage lysosomes. Hepatocytes do not accumulate glucosylceramide due in part to biliary secretion. Although gallstones (GS) occur in type 1 Gaucher disease (GD1), the chemical nature of stones, their association with metabolic parameters, and whether bile composition is altered are not understood. We assessed the prevalence of GS, their chemical composition, biliary lipids, and associated metabolic factors.
methodsThe study cohort comprised 417 patients comprehensively evaluated for GD1 severity. Ascertainment of GS, fasting lipoprotein profile, and bile lipid analyses were performed.
resultsThe prevalence of GS in GD1 was 32%. Compared with men, the prevalence of GS was higher in women, increasing from 4.2% and 11.8% at age 20-29 years to 71% and 60% at age >70 years, respectively. Patients with GS were more likely to be asplenic (p < 0.0001), older (p < 0.0001), have higher low-density lipoprotein (LDL) cholesterol (p = 0.002), and more severe GD1 disease compared with those without GS. On multiple logistic regression analysis, factors associated with GS were age (p < 0.001), female sex (p = 0.03), and splenectomy (p = 0.005). Compared with the general population, prevalence of GS was approximately 5-fold higher. Bile lipid analyses revealed cholesterol stones in five patients and pigment stones in one. Bile lipid composition was abnormal and contained glucosylceramide.
conclusionsOur results point to a metabolic syndrome in GD1 consisting of a propensity to cholesterol GS, low high-density lipoprotein (HDL) cholesterol, LDL cholesterol, and body mass index (BMI) associated with abnormal biliary lipid secretion.
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