Login Register Cart 0
Generic placeholder image

Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Case Report

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Author(s): İzzet Erdal*, Yılmaz Yıldız, Gizem Önal, Oktay Halit Aktepe, Selin Ardalı Düzgün, Arzu Sağlam, Serap Dökmeci Emre and Hatice Serap Sivri

Volume 23, Issue 2, 2023

Published on: 18 July, 2022

Page: [230 - 234] Pages: 5

DOI: 10.2174/1871530322666220420134935

Price: $65

Abstract

Background: Gaucher disease is a common lysosomal storage disease caused by the deficiency of the β-glucosidase enzyme, leading to sphingolipid accumulation in the reticuloendothelial system in Gaucher cells. Clinical findings are quite variable and some patients may remain asymptomatic lifelong. However, even when patients have mild symptoms, there is a significant increase in their quality of life with enzyme replacement therapy. We aimed to reveal the relationship between a rare mutation in the Glucosylceramidase Beta (GBA) gene and clinical signs and symptoms. Another aim of the study was to show the effect of enzyme replacement therapy on the quality of life, even in patients with mild symptoms.

Case Presentation: Here, we report a 46-year-old male diagnosed with Gaucher disease based on splenic Gaucheromas incidentally discovered in a cardiac computerized tomography scan. In GBA gene analysis, the extremely rare R87W mutation was detected in a homozygous state. In retrospect, the patient had nonspecific symptoms such as fatigue and bone pain for a long time, which were substantially ameliorated by enzyme replacement therapy.

Conclusion: In patients with adult-onset Gaucher disease, the symptoms may be mild, causing significant diagnostic delay. Gaucher disease may be included in the differential diagnosis of abdominal malignancies. Early diagnosis and treatment can improve quality of life and prevent unnecessary procedures.

Keywords: Gaucher’s disease, gaucheroma, rare mutation, enzyme replacement therapy, sptenic gaucheroma, GBA.

« Previous Next »
Graphical Abstract

[1]
Grabowski, G.A. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet, 2008, 372(9645), 1263-1271.
[http://dx.doi.org/10.1016/S0140-6736(08)61522-6 ] [PMID: 19094956]
[2]
Nalysnyk, L.; Rotella, P.; Simeone, J.C.; Hamed, A.; Weinreb, N. Gaucher disease epidemiology and natural history: A comprehensive review of the literature. Hematology, 2017, 22(2), 65-73.
[http://dx.doi.org/10.1080/10245332.2016.1240391 ] [PMID: 27762169]
[3]
Grabowski, G.A.; Zimran, A.; Ida, H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am. J. Hematol., 2015, 90(Suppl. 1), S12-S18.
[http://dx.doi.org/10.1002/ajh.24063] [PMID: 26096741]
[4]
Tylki-Szymańska, A.; Vellodi, A.; El-Beshlawy, A.; Cole, J.A.; Kolodny, E. Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J. Inherit. Metab. Dis., 2010, 33(4), 339-346.
[http://dx.doi.org/10.1007/s10545-009-9009-6] [PMID: 20084461]
[5]
Stirnemann, J.; Belmatoug, N.; Camou, F.; Serratrice, C.; Froissart, R.; Caillaud, C.; Levade, T.; Astudillo, L.; Serratrice, J.; Brassier, A.; Rose, C.; Billette de Villemeur, T.; Berger, M.G. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int. J. Mol. Sci., 2017, 18(2), 441.
[http://dx.doi.org/10.3390/ijms18020441] [PMID: 28218669]
[6]
Rolfs, A.; Giese, A-K.; Grittner, U.; Mascher, D.; Elstein, D.; Zimran, A.; Böttcher, T.; Lukas, J.; Hübner, R.; Gölnitz, U.; Röhle, A.; Dudesek, A.; Meyer, W.; Wittstock, M.; Mascher, H. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One, 2013, 8(11), e79732.
[http://dx.doi.org/10.1371/journal.pone.0079732] [PMID: 24278166]
[7]
Human Gene Mutation Database. Available from:. http://www.hgmd.org
[8]
Barazandeh, A.; Mohammadabadi, M.R.; Ghaderi-Zefrehei, M.; Rafeied, F.; Imumorin, I.G. Whole genome comparative analysis of CpG islands in camelid and other mammalian genomes. Mamm. Biol., 2019, 98(1), 73-79.
[http://dx.doi.org/10.1016/j.mambio.2019.07.007]
[9]
Moradian, H.; Esmailizadeh Koshkoiyeh, A.; Mohammadabadi, M.; Asadi Fozi, M. Whole genome detection of recent selection signatures in Sarabi cattle: A unique Iranian taurine breed. Genes Genomics, 2020, 42(2), 203-215.
[http://dx.doi.org/10.1007/s13258-019-00888-6] [PMID: 31808064]
[10]
Weinreb, N.J.; Goldblatt, J.; Villalobos, J.; Charrow, J.; Cole, J.A.; Kerstenetzky, M.; vom Dahl, S.; Hollak, C. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J. Inherit. Metab. Dis., 2013, 36(3), 543-553.
[http://dx.doi.org/10.1007/s10545-012-9528-4] [PMID: 22976765]
[11]
Rosenbloom, B.E.; Weinreb, N.J. Gaucher disease: A comprehensive review. Criti. Revi.™. Oncogene, 2013, 18(3)
[http://dx.doi.org/10.2217/ebo.12.198]
[12]
Grabowski, G.A. Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet. Test., 1997, 1(1), 5-12.
[http://dx.doi.org/10.1089/gte.1997.1.5] [PMID: 10464619]
[13]
Kaplan, P.; Baris, H.; De Meirleir, L.; Di Rocco, M.; El-Beshlawy, A.; Huemer, M.; Martins, A.M.; Nascu, I.; Rohrbach, M.; Steinbach, L.; Cohen, I.J. Revised recommendations for the management of Gaucher disease in children. Eur. J. Pediatr., 2013, 172(4), 447-458.
[http://dx.doi.org/10.1007/s00431-012-1771-z] [PMID: 22772880]
[14]
Regenboog, M.; Bohte, A.E.; Somers, I.; van Delden, O.M.; Maas, M.; Hollak, C.E. Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease. Blood Cells Mol. Dis., 2016, 60, 49-57.
[http://dx.doi.org/10.1016/j.bcmd.2016.06.009] [PMID: 27519945]
[15]
Mistry, P.K.; Cappellini, M.D.; Lukina, E.; Özsan, H.; Mach Pascual, S.; Rosenbaum, H.; Helena Solano, M.; Spigelman, Z.; Villarrubia, J.; Watman, N.P.; Massenkeil, G. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am. J. Hematol., 2011, 86(1), 110-115.
[http://dx.doi.org/10.1002/ajh.21888] [PMID: 21080341]
[16]
Hughes, D.; Mikosch, P.; Belmatoug, N.; Carubbi, F.; Cox, T.; Goker-Alpan, O.; Kindmark, A.; Mistry, P.; Poll, L.; Weinreb, N.; Deegan, P. Gaucher disease in bone: From pathophysiology to practice. J. Bone Miner. Res., 2019, 34(6), 996-1013.
[http://dx.doi.org/10.1002/jbmr.3734] [PMID: 31233632]
[17]
Javier, R-M.; Hachulla, E.; Rose, C.; Gressin, V.; Chérin, P.; Noël, E.; de Roux-Serratrice, C.; Dobbelaere, D.; Hartmann, A.; Jaussaud, R.; Clerson, P.; Grosbois, B.; Roux, C. Vertebral fractures in Gaucher disease type I: Data from the French “Observatoire” on Gaucher disease (FROG). Osteoporos. Int., 2011, 22(4), 1255-1261.
[http://dx.doi.org/10.1007/s00198-010-1342-y] [PMID: 20683713]
[18]
Kamath, R.S.; Lukina, E.; Watman, N.; Dragosky, M.; Pastores, G.M.; Arreguin, E.A.; Rosenbaum, H.; Zimran, A.; Aguzzi, R.; Puga, A.C.; Norfleet, A.M.; Peterschmitt, M.J.; Rosenthal, D.I. Skeletal improvement in patients with Gaucher disease type 1: A phase 2 trial of oral eliglustat. Skeletal Radiol., 2014, 43(10), 1353-1360.
[http://dx.doi.org/10.1007/s00256-014-1891-9] [PMID: 24816856]
[19]
Dandana, A.; Ben Khelifa, S.; Chahed, H.; Miled, A.; Ferchichi, S. Gaucher disease: Clinical, biological and therapeutic aspects. Pathobiology, 2016, 83(1), 13-23.
[http://dx.doi.org/10.1159/000440865] [PMID: 26588331]
[20]
Baris, H.N.; Cohen, I.J.; Mistry, P.K. Gaucher disease: The metabolic defect, pathophysiology, phenotypes and natural history. Pediatr. Endocrinol. Rev., 2014, 12(01)(Suppl. 1), 72-81.
[PMID: 25345088]
[21]
Önal, G. Gümüş E.; Demir, H.; Yüce, A.; Dökmeci, S. Molecular genetic analysis of Turkish Gaucher’s disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene. Meta Gene, 2020, 100725.
[http://dx.doi.org/10.1016/j.mgene.2020.100725]
[22]
Rockah, R.; Narinsky, R.; Hatskelzon, L.; Frisch, A.; Type, I.; Type, I.; Type, I. Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient. Am. J. Med. Genet., 1997, 72(1), 77-78.
[http://dx.doi.org/10.1002/(SICI)1096-8628(19971003)72:1<77:AID-AJMG16>3.0.CO;2-R] [PMID: 9295080]
[23]
Sheth, J.; Bhavsar, R.; Mistri, M.; Pancholi, D.; Bavdekar, A.; Dalal, A.; Ranganath, P.; Girisha, K.M.; Shukla, A.; Phadke, S.; Puri, R.; Panigrahi, I.; Kaur, A.; Muranjan, M.; Goyal, M.; Ramadevi, R.; Shah, R.; Nampoothiri, S.; Danda, S.; Datar, C.; Kapoor, S.; Bhatwadekar, S.; Sheth, F. Gaucher disease: Single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med. Genet., 2019, 20(1), 31.
[http://dx.doi.org/10.1186/s12881-019-0759-1] [PMID: 30764785]

Rights & Permissions Print Cite
Article Metrics
8
© 2024 Bentham Science Publishers | Privacy Policy