Mesenteric lymphadenopathy and protein-losing enteropathy in Gaucher disease type 3 despite combined enzyme replacement & substrate reduction therapy

2014 ◽  
Vol 47 (15) ◽  
pp. 139
Author(s):  
A. Mhanni ◽  
C. Greenberg ◽  
M. Deneau ◽  
J. Hartley
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Protein Losing Enteropathy ◽  
Enzyme Replacement ◽  
Substrate Reduction ◽  
Type 3

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

2008 ◽  
Vol 31 (6) ◽  
pp. 745-752 ◽  
Author(s):  
J. Cox-Brinkman ◽  
M. J. van Breemen ◽  
B. T. van Maldegem ◽  
L. Bour ◽  
W. E. Donker ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Type Iii ◽  
Enzyme Replacement ◽  
Substrate Reduction ◽  
Potential Efficacy

scholarly journals Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3

2020 ◽  
Vol 11 (20) ◽  
pp. 3464-3473
Author(s):  
Michael W. Wilson ◽  
Liming Shu ◽  
Vania Hinkovska-Galcheva ◽  
Yafei Jin ◽  
Walajapet Rajeswaran ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Glucosylceramide Synthase ◽  
Substrate Reduction ◽  
Type 3

scholarly journals Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 69
Author(s):  
Aizeddin Mhanni ◽  
Michel Boutin ◽  
Frank Stockl ◽  
Janine Johnston ◽  
Jeff Barnes ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Visual Acuity ◽  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Lysosomal Storage ◽  
High Concentration ◽  
Enzyme Replacement ◽  
Long Term Treatment ◽  
Type 3

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who responded well to the combination of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Here we report progressive bilateral vitreous and preretinal deposits with declining visual acuity requiring bilateral vitrectomies in one of these siblings. These ocular manifestations had progressed despite combined ERT and SRT with improvement in visual acuity after vitrectomies. Vitrectomy fluid analysis performed for the first time by ultra-performance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) identified a high concentration of glucosylceramide (GluCer) in the patient (262.842 nM) compared to a sample (0.428 nM from a patient without a lysosomal storage or known hereditary metabolic disorder). The GluCer detected in our patient was resolved into 12 different isoforms including two methylated ones. No evidence of galactosylceramide (GalCer) was detected. The development of these intraocular manifestations and their characterization by UPLC-MS/MS indicate a need for ongoing ophthalmologic evaluation of all GD patients and for new therapies that can cross the blood–retinal and blood–brain barriers for patients with GD and other neuropathic lysosomal storage disorders.

scholarly journals Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

2020 ◽  
Author(s):  
Shoji Yano ◽  
Kathryn Moseley ◽  
Neha Mahajan ◽  
Mikako Warren ◽  
Linda Vachon
Keyword(s):  
Combination Therapy ◽  
Enzyme Replacement Therapy ◽  
Lymph Nodes ◽  
Adult Patient ◽  
Replacement Therapy ◽  
Substrate Reduction Therapy ◽  
Protein Losing Enteropathy ◽  
Enzyme Replacement ◽  
Substrate Reduction ◽  
Type 3

AbstractGaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly develop in the lymph nodes in the mesenteric and mediastinal regions and can cause serious complications including protein-losing enteropathy. A large mesenteric Gaucheroma showed a significant reduction in size after initiation of substrate reduction therapy (SRT) with eliglustat in an adult patient with GD type 3. Combination therapy with ERT and SRT should be considered to prevent Gaucheromas in patients with GD.

Rare cause of protein losing enteropathy: Gaucher disease type 3

2020 ◽  
Vol 129 (2) ◽  
pp. S64
Author(s):  
Mehmet Akif Goktas ◽  
Ersin Gümüs ◽  
Hayriye Hizarcioglu Gülsen ◽  
Hülya Demir ◽  
İnci Nur Saltik Temizel ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Protein Losing Enteropathy ◽  
Type 3
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