Gaucher’s Disease – What Should You Know
DOI:
https://doi.org/10.12775/QS.2024.23.54666Keywords
splenomegaly, glucocerebrosidase deficiency, Liver diseaseAbstract
Gaucher’s Disease (GD) has a special place among ultra-rare diseases, which is a disease that occurs in less than onein 50 000 persons. The disease is caused by a hereditary autosomal deficiency of the lysosomal enzyme glucocerebrosidase. The pathognomonic feature of GD is the presence of storage cells or gaucher cells in spleen, liver and other organs and tissues. There are several clinical types of gaucher disease, differing in manifestation, prognosis and treatment. It is very important to diagnose the disease early so that the correct treatment can be implemented. Nowadays, it is not uncommon for general practitioners and specialists to make the wrong diagnosis due to the low probability and lack of knowledge of the disease, leading to a worsening patient's condition. A proper examination consists of a medical history, physical examination and targeted radiological examinations, which are of particular importance in the diagnosis due to changes in the body that are not otherwise detectable, but which already offer a chance to make a diagnosis. The latest treatment is based on enzyme replacement therapy, but unfortunately the prognosis in some cases is still unfavourable. This is why early diagnosis and research to find an effective treatment are so important.
References
Sumskiene E, Machaczka M. Jak rozpoznawać i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia. Acta Haematologica Polonica. 2017;48(3):165-173. doi:https://doi.org/10.1016/j.achaem.2017.07.003
Hasiński P, Bik-Multanowski M, Koba-Wszędobył M, et al. Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowania. Acta Haematologica Polonica. 2017;48(4):222-261. doi:https://doi.org/10.1016/j.achaem.2017.10.001
Suelen Porto Basgalupp, Altmann V, Filippo, et al. GBA1 variants in Brazilian Gaucher disease patients. Molecular genetics and metabolism reports. 2023;37:101006-101006. doi:https://doi.org/10.1016/j.ymgmr.2023.101006
Degnan AJ, Ho-Fung VM, Ahrens-Nicklas RC, et al. Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. Insights into Imaging. 2019;10(1). doi:https://doi.org/10.1186/s13244-019-0743-5
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S. Gaucher Disease: Clinical, Biological and Therapeutic Aspects. Pathobiology. 2015;83(1):13-23. doi:https://doi.org/10.1159/000440865
Belmatoug N, Di Rocco M, Fraga C, et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. European Journal of Internal Medicine. 2017;37:25-32. doi:10.1016/j.ejim.2016.07.011
Adar T, Ilan Y, Elstein D, Zimran A. Liver involvement in Gaucher disease – Review and clinical approach. Blood Cells, Molecules, and Diseases. 2018;68:66-73. doi:https://doi.org/10.1016/j.bcmd.2016.10.001
Weinreb NJ, Barbouth DS, Lee RE. Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy. Blood Cells, Molecules & Diseases. 2018;68:211-217. doi:https://doi.org/10.1016/j.bcmd.2016.10.002
Yang AC, Bier L, Overbey JR, et al. Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. Genetics in Medicine. 2017;19(6):652-658. doi:https://doi.org/10.1038/gim.2016.159
Abdel A, Abdalla A, Barakat T, Heba El-Taher, Ali K. Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging. Blood cells, molecules, & diseases/Blood cells, molecules & diseases. 2018;68:139-142. doi:https://doi.org/10.1016/j.bcmd.2016.12.004
Webb M, Ari Zimran, Dinur T, et al. Are transient and shear wave elastography useful tools in Gaucher disease? Blood cells, molecules, & diseases/Blood cells, molecules & diseases. 2018;68:143-147. doi:https://doi.org/10.1016/j.bcmd.2016.12.010
Serai SD, Naidu AP, Andrew Burrow T, Prada CE, Xanthakos S, Towbin AJ. Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients. Molecular Genetics and Metabolism. 2018;123(3):357-363. doi:https://doi.org/10.1016/j.ymgme.2017.10.013
Carubbi F, Cappellini MD, Fargion S, Fracanzani AL, Nascimbeni F. Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist. Digestive and Liver Disease. Published online February 2020. doi:https://doi.org/10.1016/j.dld.2020.01.004
Daniella Braz Parente, Chagas F, Renata, et al. Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease. Abdominal radiology. Published online April 20, 2024. doi:https://doi.org/10.1007/s00261-024-04293-w
Feng S, Nino Rcheulishvili, Jiang X, et al. A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach. International journal of biological sciences. 2024;20(6):2111-2129. doi:https://doi.org/10.7150/ijbs.87741
Liang M, Zhu S, Liu S, et al. Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report. BMC Nephrology. 2023;24(1). doi:https://doi.org/10.1186/s12882-023-03163-9
Minervini G, Franco R, Maria Maddalena Marrapodi, et al. Gaucher: A Systematic Review on Oral and Radiological Aspects. Medicina. 2023;59(4):670-670. doi:https://doi.org/10.3390/medicina59040670
Hughes D, Mikosch P, Belmatoug N, et al. Gaucher Disease in Bone: From Pathophysiology to Practice. Journal of Bone and Mineral Research. 2019;34(6):996-1013. doi:https://doi.org/10.1002/jbmr.3734
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular Genetics and Metabolism. 2017;120(1-2):8-21. doi:https://doi.org/10.1016/j.ymgme.2016.11.006
Mehta A, Kuter DJ, Salek SS, et al. Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative. Internal Medicine Journal. 2019;49(5):578-591. doi:https://doi.org/10.1111/imj.14156
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Copyright (c) 2024 Dominika Podgórska, Karolina Jurasz, Miłosz Sanecki, Karolina Tomczyk, Natalia Chojnacka, Ewa Rzeska, Jakub Klarycki, Radosław Cymer
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