Gaucher Disease Types I and III Responded Well to Substrate Reduction Therapy Using Eliglustat

• Published in: Internal Medicine Vol. 62; no. 20; pp. 3005 - 3011
• Main Authors: Harai, Nozomi, Ichijo, Masashi, Uchinuma, Hiroyuki, Hanihara, Mitsuto, Kawaguchi, Yoshihiko, Ichikawa, Daisuke, Tsuchiya, Kyoichiro
• Format: Journal Article
• Language: English
• Published: Tokyo The Japanese Society of Internal Medicine 15.10.2023; Japan Science and Technology Agency
• Subjects: Adenocarcinoma; Bone diseases; Case Report; Central nervous system; enzyme replacement therapy; Gaucher disease; Gaucher's disease; glucocerebrosidase; glucocerebroside; glucosyl sphingosine; Internal medicine; Malignancy; Quality of life; substrate reduction therapy
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.1425-22

Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into types I (without CNS disorders), II, and III. Substrate reduction therapy (SRT) is an oral therapy that improves patients' quality of life; however, its effect on type III GD is unknown. We administered SRT to GD types I and III patients and found it effective. Malignancy is a late complication of GD, but this is the first report of Barrett adenocarcinoma.