Diagnosis and Treatment of Fabry Disease - A Review
DOI:
https://doi.org/10.47611/jsr.v12i4.2170Keywords:
Fabry Disease, Lysosomal Storage Disorder, Alpha-galAbstract
Fabry disease is a rare lysosomal storage disease that is caused by the irregular degradation of a fatty acid. This disease causes a multisystem disorder affecting mainly the heart and kidneys due to the accumulation of the fatty acid Gb3. There is a classical presentation of Fabry, where patients show symptoms in childhood or early adolescence as well as late onset where patients show symptoms later in life in the third or fourth decade. Early diagnosis is imperative for the success of treatment. This review focuses on symptoms, diagnostic steps, treatment, and future research of Fabry disease.
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Aguilera-Correa, J.-J., Madrazo-Clemente, P., Martínez-Cuesta, M. del C., Peláez, C., Ortiz, A., Sánchez-Niño, M. D., Esteban, J., & Requena, T. (2019). Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. Scientific Reports, 9(1), 12010. https://doi.org/10.1038/s41598-019-48426-4
Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7. PMID: 29437868; PMCID: PMC5931248.
Bernardes, T. P., Foresto, R. D., & Kirsztajn, G. M. (2020). Fabry disease: Genetics, pathology, and treatment. Revista Da Associacao Medica Brasileira (1992), 66Suppl 1(Suppl 1), s10–s16. https://doi.org/10.1590/1806-9282.66.S1.10
Catharina Whybra, Elke Miebach, Eugen Mengel, Andreas Gal, Karin Baron, Michael replacement therapy with agalsidase alfa in 36 women with Fabry disease, Genetics in Medicine, Volume 11, Issue 6, 2009, Pages 441-449, ISSN 1098-3600, https://doi.org/10.1097/GIM.0b013e3181a23bec.
Colon, C., Ortolano, S., Melcon-Crespo, C. et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr 176, 1075–1081 (2017). https://doi.org/10.1007/s00431-017-2950-8
Danapilis, Sarah. “Fabrazyme: Cost, Dosage, Side Effects, Uses, and More.” Medical News Today, MediLexicon International, 2021, https://www.medicalnewstoday.com/articles/drugs-fabrazyme.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18;138(4):338-46. doi: 10.7326/0003-4819-138-4-200302180-00014. PMID: 12585833.
Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat. 1994;3(2):103-11. doi: 10.1002/humu.1380030204. PMID: 7911050.
Fabrazyme prices, Coupons & patient assistance programs. Drugs.com. (n.d.). Retrieved July 25, 2022, from https://www.drugs.com/price-guide/fabrazyme
“Fabry Disease - about the Disease.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, 8 Nov. 2021, https://rarediseases.info.nih.gov/diseases/6400/fabry-disease.
Fabry Disease- Symptoms, causes. (2019, June 6). National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/fabry-disease/
Fitting galafold into your routine. About Galafold | Explore how you can fit Galafold into your daily routine. (n.d.). Retrieved July 25, 2022, from https://www.galafold.com/patients/about-galafold/taking-galafold.php
Germain , Dominique P. “Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.” The New England Journal of Medicine, U.S. National Library of Medicine, 11 Aug. 2016, https://pubmed.ncbi.nlm.nih.gov/27509102/.
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. PMID: 25795794; PMCID: PMC4413801.
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187; PMCID: PMC3009617.
Gieselmann V. Cellular pathophysiology of lysosomal storage diseases. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 4. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11608/
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;: PMID: 27834756; PMCID: PMC5502308.
Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM. Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A). Orphanet J Rare Dis. 2014 Jul 22;9:111. doi: 10.1186/s13023-014-0111-y. PMID: 25047006; PMCID: PMC4223723.
Khan A, Barber DL, Huang J, Rupar CA, Rip JW, Auray-Blais C, Boutin M, O'Hoski P, Gargulak K, McKillop WM, Fraser G, Wasim S, LeMoine K, Jelinski S, Chaudhry A, Prokopishyn N, Morel CF, Couban S, Duggan PR, Fowler DH, Keating A, West ML, Foley R, Medin JA. Lentivirus-mediated gene therapy for Fabry disease. Nat Commun. 2021 Feb 25;12(1):1178. doi: 10.1038/s41467-021-21371-5. PMID: 33633114; PMCID: PMC7907075.
Kok K, Zwiers KC, Boot RG, Overkleeft HS, Aerts JMFG, Artola M. Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions. Biomolecules. 2021 Feb 12;11(2):271. doi: 10.3390/biom11020271. PMID: 33673160; PMCID: PMC7918333.
Kokotis, Panagiotis, et al. “Quantification of Sweat Gland Innervation in Patients with Fabry Disease: A Case-Control Study.” Journal of the Neurological Sciences, vol. 390, 2018, pp. 135–138., https://doi.org/10.1016/j.jns.2018.04.035.
Krüger-Genge A, Blocki A, Franke RP, Jung F. Vascular Endothelial Cell Biology: An Update. Int J Mol Sci. 2019 Sep 7;20(18):4411. doi: 10.3390/ijms20184411. PMID: 31500313; PMCID: PMC6769656.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O. Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. PLoS One. 2020 May 22;15(5):e0233460. doi: 10.1371/journal.pone.0233460. PMID: 32442237; PMCID: PMC7244174.
Mauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, Douillard C, Dussol B, Leguy-Seguin V, Noel E, Masseau A, Lacombe D, Maillard H, Bekri S, Lidove O, Benveniste O. Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. Journal of Clinical Medicine. 2022; 11(5):1233. https://doi.org/10.3390/jcm11051233 Mauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, Douillard C, Dussol B, Leguy-Seguin V, Noel E, Masseau A, Lacombe D, Maillard H, Bekri S, Lidove O, Benveniste O. Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. Journal of Clinical Medicine. 2022; 11(5):1233. https://doi.org/10.3390/jcm11051233
Myerowitz R, Puertollano R, Raben N. Impaired autophagy: The collateral damage of lysosomal storage disorders. EBioMedicine. 2021 Jan;63:103166. doi: 10.1016/j.ebiom.2020.103166. Epub 2020 Dec 17. PMID: 33341443; PMCID: PMC7753127.
Nowak, A., Murik, O., Mann, T. et al. Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing. Sci Rep 11, 22372 (2021). https://doi.org/10.1038/s41598-021-01749-7
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Erratum in: Nat Rev Dis Primers. 2018 Oct 18;4(1):36. Erratum in: Nat Rev Dis Primers. 2019 May 17;5(1):34. PMID: 30275469.
Politei, Juan M, et al. “Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.” CNS Neuroscience & Therapeutics, John Wiley and Sons Inc., July 2016, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071655/.
Ries M, Gal A. Genotype–phenotype correlation in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 34. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11584/
Sodi A, Ioannidis A, Pitz S. Ophthalmological manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 26. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11599/
Tan, Victoria. “Gene Therapy for Fabry Disease.” Fabry Disease News, 28 Dec. 2020, https://fabrydiseasenews.com/gene-therapy-for-fabry-disease/.
van der Veen , S. J., Hollak, C. E., van Kuilenberg, A., & Langeveld, M. (2020). Developments in the treatment of Fabry disease. Journal of inherited metabolic disease. Retrieved April 2, 2022, from https://pubmed.ncbi.nlm.nih.gov/32083331/
Waldek, S., Patel, M. R., Banikazemi, M., Lemay, R., & Lee, P. (2009). Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genetics in medicine : official journal of the American College of Medical Genetics, 11(11), 790–796. https://doi.org/10.1097/GIM.0b013e3181bb05bb
Yim J, Yau O, Yeung DF, Tsang TSM. Fabry Cardiomyopathy: Current Practice and Future Directions. Cells. 2021 Jun 17;10(6):1532. doi: 10.3390/cells10061532. PMID: 34204530; PMCID: PMC8233708.
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