Diagnosis and Screening of Patients with Fabry Disease

References

• Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276(21):1163–1167. doi:10.1056/NEJM196705252762101
   PubMed Web of Science ®Google Scholar
• Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338–346. doi:10.7326/0003-4819-138-4-200302180-00014
   PubMed Web of Science ®Google Scholar
• Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med. 2001;345:9–16. doi:10.1056/NEJM200107053450102
   PubMed Web of Science ®Google Scholar
• Kramer J, Lenders M, Canaan-Kuhl S, et al. Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages. Nephrol Dial Transplant. 2018;33:1362–1372. doi:10.1093/ndt/gfx319
   PubMed Web of Science ®Google Scholar
• Muntze J, Gensler D, Maniuc O, et al. Oral chaperone therapy migalastat for treating fabry disease: enzymatic response and serum biomarker changes after 1 year. Clin Pharmacol Ther. 2019;105:1224–1233. doi:10.1002/cpt.1321
   PubMed Web of Science ®Google Scholar
• Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - fabry outcome survey. J Med Genet. 2009;46:548–552. doi:10.1136/jmg.2008.065904
   PubMed Web of Science ®Google Scholar
• Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry. Genet Med. 2009;11:790–796. doi:10.1097/GIM.0b013e3181bb05bb
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–254. doi:10.1001/jama.281.3.249
   PubMed Web of Science ®Google Scholar
• Colon C, Ortolano S, Melcon-Crespo C, et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr. 2017;176:1075–1081. doi:10.1007/s00431-017-2950-8
   PubMed Web of Science ®Google Scholar
• van der Tol L, Smid BE, Poorthuis BJ, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet. 2014;51(1):1–9. doi:10.1136/jmedgenet-2013-101857
   PubMed Web of Science ®Google Scholar
• Sodre LSS, Huaira R, Bastos MG, Colugnati FAB, Coutinho MP, Fernandes N. Screening for fabry disease in kidney disease: a cross-sectional study in males and females. Kidney Blood Press Res. 2017;42(6):1258–1265. doi:10.1159/000485929
   PubMed Web of Science ®Google Scholar
• Saito O, Kusano E, Akimoto T, et al. Prevalence of Fabry disease in dialysis patients: japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2016;20(2):284–293. doi:10.1007/s10157-015-1146-7
   PubMed Web of Science ®Google Scholar
• Herrera J, Miranda CS. Prevalence of Fabry’s disease within hemodialysis patients in Spain. Clin Nephrol. 2014;81:112–120. doi:10.5414/CN108053
   PubMed Web of Science ®Google Scholar
• Kleinert J, Kotanko P, Spada M, et al. Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int. 2009;22:287–292. doi:10.1111/j.1432-2277.2008.00791.x
   PubMed Web of Science ®Google Scholar
• Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366(9499):1794–1796. doi:10.1016/S0140-6736(05)67635-0
   PubMed Web of Science ®Google Scholar
• Brouns R, Sheorajpanday R, Braxel E, et al. Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. Clin Neurol Neurosurg. 2007;109:479–484. doi:10.1016/j.clineuro.2007.03.008
   PubMed Web of Science ®Google Scholar
• Lanthier S, Saposnik G, Lebovic G, et al. Prevalence of fabry disease and outcomes in young canadian patients with cryptogenic ischemic cerebrovascular events. Stroke. 2017;48:1766–1772. doi:10.1161/STROKEAHA.116.016083
   PubMed Web of Science ®Google Scholar
• Kinoshita N, Hosomi N, Matsushima H, et al. Screening for fabry disease in japanese patients with young-onset stroke by measuring alpha-galactosidase a and globotriaosylsphingosine. J Stroke Cerebrovasc Dis. 2018;27:3563–3569. doi:10.1016/j.jstrokecerebrovasdis.2018.08.025
   PubMed Web of Science ®Google Scholar
• Lee TH, Yang JT, Lee JD, et al. Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature. Eur J Neurol. 2019;26:553–555. doi:10.1111/ene.13775
   PubMed Web of Science ®Google Scholar
• Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of anderson-fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407–1411. doi:10.1161/01.CIR.0000012626.81324.38
   PubMed Web of Science ®Google Scholar
• Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288–293. doi:10.1056/NEJM199508033330504
   PubMed Web of Science ®Google Scholar
• Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047–1053. doi:10.1161/01.CIR.0000139847.74101.03
   PubMed Web of Science ®Google Scholar
• Elliott P, Baker R, Pasquale F, et al. Prevalence of anderson-fabry disease in patients with hypertrophic cardiomyopathy: the European anderson-fabry disease survey. Heart. 2011;97:1957–1960. doi:10.1136/heartjnl-2011-300364
   PubMed Web of Science ®Google Scholar
• Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50:2399–2403. doi:10.1016/j.jacc.2007.06.062
   PubMed Web of Science ®Google Scholar
• Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet. 2018;55:261–268. doi:10.1136/jmedgenet-2017-105080
   PubMed Web of Science ®Google Scholar
• Capuano I, Garofalo C, Buonanno P, et al. Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019. J Nephrol. 2019. doi:10.1007/s40620-019-00663-6.
   PubMed Web of Science ®Google Scholar
• Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. Clinical features, diagnosis, and management of patients with anderson-fabry cardiomyopathy. Can J Cardiol. 2017;33:883–897. doi:10.1016/j.cjca.2017.04.015
   PubMed Web of Science ®Google Scholar
• Favalli V, Disabella E, Molinaro M, et al. Genetic screening of anderson-fabry disease in probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68:1037–1050. doi:10.1016/j.jacc.2016.05.090
   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;17:323–330. doi:10.1038/gim.2014.120
   PubMed Web of Science ®Google Scholar
• Mehta A, Hughes DA. Fabry Disease. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. Genereviews(R) [Internet]. Seattle (WA). August 5, 2002;1993–2019. Available from: http:www.ncbi.nlm.nih.gov/books/NBK1292/. Accessed December 26, 2019.
   Google Scholar
• Liguori R, Incensi A, de Pasqua S, et al. Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. PLoS One. 2017;12:e0180581. doi:10.1371/journal.pone.0180581
   PubMed Web of Science ®Google Scholar
• Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010;41:78–81. doi:10.1161/STROKEAHA.109.558320
   PubMed Web of Science ®Google Scholar
• van der Tol L, Svarstad E, Ortiz A, et al. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab. 2015;114:242–247. doi:10.1016/j.ymgme.2014.08.007
   PubMed Web of Science ®Google Scholar
• Nagueh SF. Anderson-Fabry disease and other lysosomal storage disorders. Circulation. 2014;130:1081–1090. doi:10.1161/CIRCULATIONAHA.114.009789
   PubMed Web of Science ®Google Scholar
• El-Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci. 2014;344:5–19. doi:10.1016/j.jns.2014.06.029
   PubMed Web of Science ®Google Scholar
• Gambarin FI, Disabella E, Narula J, et al. When should cardiologists suspect Anderson-Fabry disease? Am J Cardiol. 2010;106:1492–1499. doi:10.1016/j.amjcard.2010.07.016
   PubMed Web of Science ®Google Scholar
• Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812–2817. doi:10.1073/pnas.0712309105
   PubMed Web of Science ®Google Scholar
• Moon JC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J. 2003;24:2151–2155. doi:10.1016/j.ehj.2003.09.017
   PubMed Web of Science ®Google Scholar
• Pastores GM, Hughes DA. To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model. Kidney Int. 2009;75:351–353. doi:10.1038/ki.2008.606
   PubMed Web of Science ®Google Scholar
• Germain DP, Elliott PM, Falissard B, et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019;19:100454. doi:10.1016/j.ymgmr.2019.100454
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Fuller M, Clarke LA, Aerts JM. Is it Fabry disease? Genet Med. 2016;18:1181–1185. doi:10.1038/gim.2016.55
   PubMed Web of Science ®Google Scholar
• Smid BE, van der Tol L, Cecchi F, et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol. 2014;177:400–408. doi:10.1016/j.ijcard.2014.09.001
   PubMed Web of Science ®Google Scholar
• Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the national society of genetic counselors. J Genet Couns. 2013;22:555–564. doi:10.1007/s10897-013-9613-3
   PubMed Web of Science ®Google Scholar
• Clarke JT. Narrative review: fabry disease. Ann Intern Med. 2007;146:425–433. doi:10.7326/0003-4819-146-6-200703200-00007
   PubMed Web of Science ®Google Scholar
• Havndrup O, Christiansen M, Stoevring B, et al. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. Eur J Heart Fail. 2010;12:535–540. doi:10.1093/eurjhf/hfq073
   PubMed Web of Science ®Google Scholar
• Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet. 2010;47:217–222. doi:10.1136/jmg.2009.072116
   PubMed Web of Science ®Google Scholar
• Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9:34–45. doi:10.1097/GIM.0b013e31802d8321
   PubMed Web of Science ®Google Scholar
• Niemann M, Rolfs A, Stork S, et al. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet. 2014;7:8–16. doi:10.1161/CIRCGENETICS.113.000249
   PubMed Web of Science ®Google Scholar
• Putko BN, Wen K, Thompson RB, et al. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev. 2015;20:179–191. doi:10.1007/s10741-014-9452-9
   PubMed Web of Science ®Google Scholar
• Benjamin ER, Della Valle MC, Wu X, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med. 2017;19:430–438. doi:10.1038/gim.2016.122
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R. The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease. Mol Genet Metab Rep. 2019;20:100494. doi:10.1016/j.ymgmr.2019.100494
   PubMed Web of Science ®Google Scholar
• Lukas J, Cimmaruta C, Liguori L, et al. Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease. Int J Mol Sci. 2020;21(3):956.
   PubMed Web of Science ®Google Scholar
• Weidemann F, Breunig F, Beer M, et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J. 2005;26:1221–1227. doi:10.1093/eurheartj/ehi143
   PubMed Web of Science ®Google Scholar
• Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007;28:1228–1235. doi:10.1093/eurheartj/ehm153
   PubMed Web of Science ®Google Scholar
• Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019;126:169–182. doi:10.1016/j.ymgme.2018.11.005
   PubMed Web of Science ®Google Scholar
• Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003;107:1978–1984. doi:10.1161/01.CIR.0000061952.27445.A0
   PubMed Web of Science ®Google Scholar
• Kramer J, Niemann M, Liu D, et al. Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease. Eur Heart J. 2013;34:1587–1596. doi:10.1093/eurheartj/eht098
   PubMed Web of Science ®Google Scholar
• Imbriaco M, Nappi C, Ponsiglione A, et al. Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson-Fabry disease: AFFINITY study group. Eur Heart J Cardiovasc Imaging. 2019;20:1004–1011. doi:10.1093/ehjci/jez039
   PubMed Web of Science ®Google Scholar
• Pica S, Sado DM, Maestrini V, et al. Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2014;16:99. doi:10.1186/s12968-014-0099-4
   PubMed Web of Science ®Google Scholar
• Sado DM, White SK, Piechnik SK, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging. 2013;6:392–398. doi:10.1161/CIRCIMAGING.112.000070
   PubMed Web of Science ®Google Scholar
• Nappi C, Altiero M, Imbriaco M, et al. First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease. Eur J Nucl Med Mol Imaging. 2015;42:1025–1031. doi:10.1007/s00259-015-3036-3
   PubMed Web of Science ®Google Scholar
• Seydelmann N, Liu D, Kramer J, et al. High-sensitivity troponin: a clinical blood biomarker for staging cardiomyopathy in fabry disease. J Am Heart Assoc. 2016;5:e002839. doi:10.1161/JAHA.115.002839
   PubMed Web of Science ®Google Scholar
• Kramer J, Weidemann F. Biomarkers for diagnosing and staging of fabry disease. Curr Med Chem. 2018;25:1530–1537. doi:10.2174/0929867324666170616102112
   PubMed Web of Science ®Google Scholar
• Coats CJ, Parisi V, Ramos M, et al. Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease. Am J Cardiol. 2013;111:111–117. doi:10.1016/j.amjcard.2012.08.055
   PubMed Web of Science ®Google Scholar
• Torralba-Cabeza MA, Olivera S, Hughes DA, Pastores GM, Mateo RN, Perez-Calvo JI. Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease. Mol Genet Metab. 2011;104:301–307. doi:10.1016/j.ymgme.2011.06.021
   PubMed Web of Science ®Google Scholar
• Kramer J, Niemann M, Stork S, et al. Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol. 2014;114:895–900. doi:10.1016/j.amjcard.2014.06.019
   PubMed Web of Science ®Google Scholar
• Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539–548. doi:10.1097/01.gim.0000237866.70357.c6
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Waldek S, Benigni A, Auray-Blais C. Biomarkers of Fabry disease nephropathy. Clin J Am Soc Nephrol. 2010;5:360–364. doi:10.2215/CJN.06090809
   PubMed Web of Science ®Google Scholar
• Riccio E, Sabbatini M, Capuano I, Pisani A. Early biomarkers of fabry nephropathy: a review of the literature. Nephron. 2019;143:274–281. doi:10.1159/000502907
   PubMed Web of Science ®Google Scholar
• Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5:2220–2228. doi:10.2215/CJN.04340510
   PubMed Web of Science ®Google Scholar
• Glass RB, Astrin KH, Norton KI, et al. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004;28:158–168. doi:10.1097/00004728-200403000-00002
   PubMed Web of Science ®Google Scholar
• Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008;51:767–776. doi:10.1053/j.ajkd.2007.12.032
   PubMed Web of Science ®Google Scholar
• Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61.
   Google Scholar
• Moller AT, Jensen TS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol. 2007;3:95–106. doi:10.1038/ncpneuro0407
   PubMedGoogle Scholar
• Low M, Nicholls K, Tubridy N, et al. Neurology of Fabry disease. Intern Med J. 2007;37:436–447. doi:10.1111/j.1445-5994.2007.01366.x
   PubMed Web of Science ®Google Scholar
• Reisin RC, Romero C, Marchesoni C, et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci. 2011;305:41–44. doi:10.1016/j.jns.2011.03.020
   PubMed Web of Science ®Google Scholar
• Lee HJ, Hung SC, Hsu TR, et al. Brain MR imaging findings of cardiac-type fabry disease with an IVS4+919G>A mutation. AJNR Am J Neuroradiol. 2016;37:1044–1049. doi:10.3174/ajnr.A4677
   PubMed Web of Science ®Google Scholar
• Morrison AS. Screening. In: Rothman KJ, Greenland S, editors. Modern Epidemiology. 2nd ed. Philadelphia: Lippincott Williams & Wilkins; 1998:499–518.
   Google Scholar
• Hagege A, Reant P, Habib G, et al. Fabry disease in cardiology practice: literature review and expert point of view. Arch Cardiovasc Dis. 2019;112:278–287. doi:10.1016/j.acvd.2019.01.002
   PubMed Web of Science ®Google Scholar
• Auray-Blais C, Lavoie P, Abaoui M, et al. High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clin Chim Acta. 2019;501:234–240.
   PubMed Web of Science ®Google Scholar
• Sodi A, Nicolosi C, Vicini G, Lenzetti C, Virgili G, Rizzo S. Computer-assisted retinal vessel diameter evaluation in Fabry disease. Eur J Ophthalmol. 2019;1120672119886985.
   Web of Science ®Google Scholar
• Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: improving Global Outcomes” (KDIGO) controversies conference. Kidney Int. 2017;91:284–293.
   PubMed Web of Science ®Google Scholar