Abstract
BackgroundGastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).Case presentationHere, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions.ConclusionThis shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT.
Highlights
Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).Case presentation: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa
This shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT
As subject 2 was concerned about adverse events and the effectiveness of a high dose of ERT or eliglustat, he did not want to increase the dosage of ERT or switch to eliglustat tartrate as his older brother had
Summary
Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).Case presentation: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Conclusion: This shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT. * Correspondence: chongkun@pusan.ac.kr; hwyoo@amc.seoul.kr 1Department of Pediatrics, College of Medicine, Pusan National University Children’s Hospital, Yangsan, Korea 4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Full list of author information is available at the end of the article report unusual GI mucosal involvement in identical twin Korean siblings with non-neuronopathic GD during long-term ERT, and clinical improvement 1 year after the administration of eliglustat tartrate.
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