Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Oct 15;62(20):3005-3011.
doi: 10.2169/internalmedicine.1425-22. Epub 2023 Mar 8.

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

Nozomi Harai  1 , Masashi Ichijo  2 , Hiroyuki Uchinuma  1 , Mitsuto Hanihara  3 , Yoshihiko Kawaguchi  4 , Daisuke Ichikawa  4 , Kyoichiro Tsuchiya  1
Affiliations

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

Nozomi Harai et al. Intern Med. .

Abstract

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.

Keywords: Gaucher disease; enzyme replacement therapy; glucocerebrosidase; glucocerebroside; glucosyl sphingosine; substrate reduction therapy.

PubMed Disclaimer

Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure 1.
Figure 1.
Family tree. Half-gray and full-gray individuals are Gaucher disease carriers and developers, respectively. Slashes indicate deceased persons. Case 1 (arrow on the left). Case 2 (arrow on the right). DM: diabetes mellitus
Figure 2.
Figure 2.
Changes in blood test results and treatment since the initial visit. The solid line with circular joints indicates the platelet count. The dotted line with circular joints indicates the hemoglobin level. The solid line with square joints indicates the serum ACE level. Plt: platelet, Hb: hemoglobin, ACE: angiotensin-converting enzyme
Figure 3.
Figure 3.
Changes in blood test results, events, and treatment since the initial visit. The solid line with circular joints indicates the platelet count. The dotted line with circular joints indicates the hemoglobin level. The solid line with square joints indicates the serum ACE level. (a) Subtotal esophagectomy for Barrett adenocarcinoma, (b) initiation of clarithromycin treatment for chronic sinusitis, and detection of (c) a lung tumor in S3 followed by that in S6 and (d) a cerebellar tumor. B: Computed tomography image of the lung tumors in S3 (left) and S6 (right) (arrows). C: Magnetic resonance imaging of the cerebellar tumor (arrow). Plt: platelet, Hb: hemoglobin, ACE: angiotensin-converting enzyme
See this image and copyright information in PMC

References

    1. Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 83: 6-15, 2004. - PubMed
    1. Nilsson O, Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 39: 709-718, 1982. - PubMed
    1. Lukina E, Watman N, Dragosky M, et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol Dis 53: 274-276, 2014. - PubMed
    1. Cox TM, Drelichman G, Cravo R, et al. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomized, open-label, non-inferiority trial. Lancet 385: 2355-2362, 2015. - PubMed
    1. The International Collaborative Gaucher Group. Gaucher Registry 2010 Annual Report (Data cutoff 31 Dec. 2009). Gen-zyme 2010.