ArticleJournal of inherited metabolic disease2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.
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 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Enzyme replacement and substrate reduction therapy for Gaucher disease.The Cochrane database of systematic reviews · 2015Pooled it
- Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.American journal of hematology · 2021Trial
- Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.American journal of hematology · 2016Trial
- Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.Indian journal of pediatrics · 2025Article
- High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy.International journal of molecular sciences · 2023Article
- Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.Journal of clinical medicine · 2022Review
- Real-Life Experience with Oral Eliglustat in Patients with Gaucher Disease Previously Treated with Enzyme Replacement Therapy.Journal of clinical medicine · 2022Article
- Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease.Molecular genetics and metabolism reports · 2021Article
- A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact.Hematology. American Society of Hematology. Education Program · 2020Review
- Very rare condition of multiple Gaucheroma: A case report and review of the literature.Molecular genetics and metabolism reports · 2019Article
- Very rare condition of multiple Gaucheroma: A case report and review of the literature.Molecular genetics and metabolism reports · 2019Article
- Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.Molecular genetics and metabolism reports · 2017Article
- A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.International journal of molecular sciences · 2017Review
- Hemorrhagic aspects of Gaucher disease.Rambam Maimonides medical journal · 2014Article
- Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.Journal of inherited metabolic disease · 2013Article
- Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.Advances in hematology · 2013Article
- A reappraisal of Gaucher disease-diagnosis and disease management algorithms.American journal of hematology · 2011Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Focal splenic lesions (FSL) occur in Gaucher disease type I (GD1), but their clinical significance is not known. Previous studies estimated the prevalence of FSL at 4% (pediatric) to 33% (adult) of GD1 patients and reported an association with splenomegaly. We tested the hypothesis that the presence of FSL is associated with suboptimal response to macrophage-directed enzyme replacement therapy (ERT). Additionally we investigated whether FSL were associated with other phenotypic features of GD1. The splenic parenchyma was assessed by MRI performed for routine evaluation of GD1 in 239 consecutive GD1 patients with intact spleens. The prevalence of FSL was 18.4% (44/239). Following a mean of 3.5 years of ERT, platelet response was inferior among patients with FSL (80,700 ± 9,600 to 90,100 ± 7,200/mm(3) , P = 0.2) compared to patients without FSL in whom there was a robust platelet response: 108,600 ± 5,670 to 150,200 ± 6,710/mm(3), P < 0.001. Compared to patients without FSL, patients harboring FSL had worse thrombocytopenia (platelet count: 83,700 ± 8,800 vs. 112,100 ± 4,200/mm(3), P = 0.004), greater frequency of pre-ERT splenomegaly, and greater post-ERT splenomegaly (8.5 ± 0.77 vs. 4.8 ± 0.25× normal, P < 0.001). Additionally, the prevalence of osteonecrosis was higher among patients with FSL compared to patients without FSL (38 vs. 20.7%, P = 0.026). FSL appear to be a determinant of response to ERT, suggesting studies comparing relative efficacy of newly emerging therapies for GD1 should adjust for this factor. Moreover, occurrences of FSL coincide with more severe manifestations of GD1 such as avascular osteonecrosis.
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