Multidisciplinary Management of Fabry Disease: Current Perspectives

References

• Anderson WA. A case of angiokeratoma. Br J Dermatol. 1898;18:113–117.
   Google Scholar
• Fabry J. Ein Beitrag zur Kenntnis der Purpura hammarrhagica nodularis. Arch Dermatol Syphilol. 1898;43:187–200.
   Google Scholar
• Biegstraaten M, Arngrímsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015;10:36. doi:10.1186/s13023-015-0253-6
   PubMed Web of Science ®Google Scholar
• Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31–40. doi:10.1086/504601
   PubMed Web of Science ®Google Scholar
• Lin HY, Chong KW, Hsu JH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet. 2009;2(5):450–456. doi:10.1161/CIRCGENETICS.109.862920
   PubMedGoogle Scholar
• Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL. Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns- superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med. 2012;18(1):780–784. doi:10.2119/molmed.2012.00002
   PubMed Web of Science ®Google Scholar
• Sestito S, Ceravolo F, Concolino D. Anderson-Fabry disease in children. Curr Pharm Des. 2013;19(33):6037–6045. doi:10.2174/13816128113199990345
   PubMed Web of Science ®Google Scholar
• Vedder AC, Strijland A, Vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis. 2006;29(1):106–111. doi:10.1007/s10545-006-0196-0
   PubMed Web of Science ®Google Scholar
• Shimotori M, Maruyama H, Nakamura G, et al. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat. 2008;29(2):331. doi:10.1002/humu.9520
   PubMed Web of Science ®Google Scholar
• Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003;64:801–807. doi:10.1046/j.1523-1755.2003.00160.x
   PubMed Web of Science ®Google Scholar
• Yoshitama T, Nakao S, Takenaka T, et al. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry’s disease. Am J Cardiol. 2001;87:71–75. doi:10.1016/S0002-9149(00)01275-3)
   PubMed Web of Science ®Google Scholar
• Viggiano E, Politano L. X chromosome inactivation in carriers of Fabry disease: review and meta-analysis. Int J Mol Sci. 2021;22(14):7663. doi:10.3390/ijms22147663)
   PubMed Web of Science ®Google Scholar
• Vedder AC, Linthorst GE, van Breemen MJ, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis. 2007;30(1):68–78. doi:10.1007/s10545-006-0484-8
   PubMed Web of Science ®Google Scholar
• Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30
   PubMed Web of Science ®Google Scholar
• Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631–1641. doi:10.1681/ASN.2016090964
   PubMed Web of Science ®Google Scholar
• Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44–54. doi:10.1111/cge.12613
   PubMed Web of Science ®Google Scholar
• Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol. 2008;130(3):367–373.
   PubMed Web of Science ®Google Scholar
• Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50(25):2399–2403. doi:10.1016/j.jacc.2007.06.062
   PubMed Web of Science ®Google Scholar
• Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005;96(6):842–846. doi:10.1016/j.amjcard.2005.05.033
   PubMed Web of Science ®Google Scholar
• Hsu TR, Hung SC, Chang FP, et al. Later onset Fabry disease, cardiac damage progress in silence: experience with a highly prevalent mutation. J Am Coll Cardiol. 2016;68(23):2554–2563. doi:10.1016/j.jacc.2016.09.943
   PubMed Web of Science ®Google Scholar
• Moore DF, Kaneski CR, Askari H, Schiffmann R. The cerebral vasculopathy of Fabry disease. J Neurol Sci. 2007;257(1–2):258–263. doi:10.1016/j.jns.2007.01.053
   PubMed Web of Science ®Google Scholar
• DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000;47(2):229–233.
   PubMed Web of Science ®Google Scholar
• Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol. 2004;251(5):564–570. doi:10.1007/s00415-004-0364-9
   PubMed Web of Science ®Google Scholar
• Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging. 2001;11(3):303–307. doi:10.1111/j.1552-6569.2001.tb00051.x
   PubMed Web of Science ®Google Scholar
• Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006;95(1):86–92. doi:10.1080/08035250500275022
   PubMed Web of Science ®Google Scholar
• Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009;38(4):190–192. doi:10.3928/00904481-20090401-01
   PubMed Web of Science ®Google Scholar
• Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–242. doi:10.1111/j.1365-2362.2004.01309.x
   PubMed Web of Science ®Google Scholar
• Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain. 2000;84(2–3):361–365. doi:10.1016/s0304-3959(99)00236-5
   PubMed Web of Science ®Google Scholar
• MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol. 2001;429(1–3):121–125. doi:10.1016/s0014-2999(01)01312-7
   PubMed Web of Science ®Google Scholar
• Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 2008;79(11):1249–1254. doi:10.1136/jnnp.2008.143693
   PubMed Web of Science ®Google Scholar
• Hsu TR, Niu DM. Fabry disease: review and experience during newborn screening. Trends Cardiovasc Med. 2018;28(4):274–281. doi:10.1016/j.tcm.2017.10.001
   PubMed Web of Science ®Google Scholar
• Laney DA, Peck DS, Atherton AM, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015;17(5):323–330. doi:10.1038/gim.2014.120
   PubMed Web of Science ®Google Scholar
• Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry disease in stroke patients–a systematic review and meta-analysis. J Stroke Cerebrovasc Dis. 2014;23(5):985–992. doi:10.1016/j.jstrokecerebrovasdis.2013.08.010
   PubMed Web of Science ®Google Scholar
• Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009;40(3):788–794. doi:10.1161/STROKEAHA.108.526293
   PubMed Web of Science ®Google Scholar
• Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J. Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet. 2004;14(4):199–201. doi:10.1097/00041444-200412000-00006
   PubMed Web of Science ®Google Scholar
• Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416–427. doi:10.1016/j.ymgme.2018.02.014
   PubMed Web of Science ®Google Scholar
• Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62(6):1933–1946. doi:10.1046/j.1523-1755.2002.00675.x
   PubMed Web of Science ®Google Scholar
• West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. 2009;20(5):1132–1139. doi:10.1681/ASN.2008080870
   PubMed Web of Science ®Google Scholar
• Hopkin RJ, Feldt-Rasmussen U, Germain DP, et al. Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: a Fabry Registry analysis stratified by phenotype. Mol Genet Metab Rep. 2020;25:100670. doi:10.1016/j.ymgmr.2020.100670
   PubMed Web of Science ®Google Scholar
• Hoffmann B, Schwarz M, Mehta A, Keshav S. Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007;5(12):1447–1453. doi:10.1016/j.cgh.2007.08.012
   PubMed Web of Science ®Google Scholar
• Orteu CH, Jansen T, Lidove O, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 2007;157(2):331–337. doi:10.1111/j.1365-2133.2007.08002.x
   PubMed Web of Science ®Google Scholar
• Keilmann A, Hajioff D, Ramaswami U, Investigators FOS. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis. 2009;32(6):739. doi:10.1007/s10545-009-1290-x
   PubMed Web of Science ®Google Scholar
• Thévenot C, Crrouzet J, Villiaumey J, Avouac B, Le Charpentier Y. V. M. C. Les Manifestations Articulaires de la Maladie de Fabry. A Propos de Deux Observations. SEM.HÔP PARIS; 1992:486–493.
   Google Scholar
• Lidove O, Zeller V, Chicheportiche V, et al. Musculoskeletal manifestations of Fabry disease: a retrospective study. Joint Bone Spine. 2016;83(4):421–426. doi:10.1016/j.jbspin.2015.11.001
   PubMed Web of Science ®Google Scholar
• Chimenti C, Padua L, Pazzaglia C, et al. Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. Hum Pathol. 2012;43(9):1444–1452. doi:10.1016/j.humpath.2011.09.020
   PubMed Web of Science ®Google Scholar
• Chatre C, Filippi N, Roubille F, Pers YM. Heart involvement in a woman treated with hydroxychloroquine for systemic lupus erythematosus revealing Fabry disease. J Rheumatol. 2016;43(5):997–998. doi:10.3899/jrheum.151357
   PubMed Web of Science ®Google Scholar
• Martinez P, Aggio M, Rozenfeld P. High incidence of autoantibodies in Fabry disease patients. J Inherit Metab Dis. 2007;30(3):365–369. doi:10.1007/s10545-007-0513-2
   PubMed Web of Science ®Google Scholar
• Katsumata N, Ishiguro A, Watanabe H. Fabry disease superimposed on overt autoimmune hypothyroidism. Clin Pediatr Endocrinol. 2011;20(4):95–98. doi:10.1297/cpe.20.95
   PubMedGoogle Scholar
• Yin G, Wu Y, Zeng CH, Chen HP, Liu ZH. Coexistence of Fabry disease and IgA nephropathy: a report of two cases. Ir J Med Sci. 2014;183(4):671–675. doi:10.1007/s11845-014-1161-9
   PubMed Web of Science ®Google Scholar
• Hanaoka H, Hashiguchi A, Konishi K, Ishii T, Kuwana M. A rare association between Fabry’s disease and granulomatosis with polyangiitis: a potential pathogenic link. BMC Nephrol. 2014;15:157.
   PubMed Web of Science ®Google Scholar
• Rosa Neto NS, Bento JCB, Pereira RMR. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients. Adv Rheumatol. 2020;60(1):7. doi:10.1186/s42358-019-0111-7
   PubMedGoogle Scholar
• Paim-Marques L, Cavalcante AV, Verçosa I, et al. Frequency of Fabry disease in a juvenile idiopathic arthritis cohort. Pediatr Rheumatol Online J. 2021;19(1):91. doi:10.1186/s12969-021-00563-9
   PubMed Web of Science ®Google Scholar
• Gonçalves MJ, Mourão AF, Martinho A, et al. Genetic screening of mutations associated with Fabry disease in a nationwide cohort of juvenile idiopathic arthritis patients. Front Med (Lausanne). 2017;4:12. doi:10.3389/fmed.2017.00012
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Fuller M, Clarke LA, Aerts JM. Is it Fabry disease? Genet Med. 2016;18(12):1181–1185. doi:10.1038/gim.2016.55
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Swift C, Wang X, Blankenship D, Ries M. A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. J Inherit Metab Dis. 2015;38(6):1129–1136. doi:10.1007/s10545-015-9845-5
   PubMed Web of Science ®Google Scholar
• Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis. 2014;37(3):341–352. doi:10.1007/s10545-014-9677-8
   PubMed Web of Science ®Google Scholar
• Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64(5):550–555. doi:10.1203/PDR.0b013e318183f132
   PubMed Web of Science ®Google Scholar
• Acharya D, Doppalapudi H, Tallaj JA. Arrhythmias in Fabry cardiomyopathy. Card Electrophysiol Clin. 2015;7(2):283–291. doi:10.1016/j.ccep.2015.03.014
   PubMedGoogle Scholar
• Patel MR, Cecchi F, Cizmarik M, et al. Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Coll Cardiol. 2011;57(9):1093–1099. doi:10.1016/j.jacc.2010.11.018
   PubMed Web of Science ®Google Scholar
• Hagège A, Réant P, Habib G, et al. Fabry disease in cardiology practice: literature review and expert point of view. Arch Cardiovasc Dis. 2019;112(4):278–287. doi:10.1016/j.acvd.2019.01.002
   PubMed Web of Science ®Google Scholar
• Warnock DG, Thomas CP, Vujkovac B, et al. Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet. 2015;52(12):860–866. doi:10.1136/jmedgenet-2015-103471
   PubMed Web of Science ®Google Scholar
• Hoffmann B, Garcia de Lorenzo A, Mehta A, et al. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet. 2005;42(3):247–252. doi:10.1136/jmg.2004.025791
   PubMed Web of Science ®Google Scholar
• Arends M, Hollak CEB, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis. 2015;10:77. doi:10.1186/s13023-015-0296-8
   PubMed Web of Science ®Google Scholar
• Rosa-Neto NS, Bento JCB, Pereira RMR. Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients. Mol Genetics Metabol Rep. 2020;22:100547. doi:10.1016/j.ymgmr.2019.100547
   PubMed Web of Science ®Google Scholar