201
Views
23
CrossRef citations to date
0
Altmetric
Reviews

Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?

, MB BCh MRCP FRCPath (Clinical Research Fellow) & , MB MBChir MA MD FRCP FRCPath (Professor, Director)
Pages 589-599 | Published online: 16 Oct 2013

Bibliography

  • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-60
  • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001;38:769-75
  • 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;138:338-46
  • Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54
  • Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40
  • Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012;379:335-41
  • Chien YH, Lee NC, Chiang SC, et al. Fabry disease: incidence of the common later-onset alpha-galactosidase A IVS4+919G-->A mutation in Taiwanese newborns–superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med 2012;18:780-4
  • Anderson W. A case of “angio-keratoma”. Br J Dermatol 1898;10:113-17
  • Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898;43:187-200
  • Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92
  • 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;34:236-42
  • Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007;5:1447-53
  • 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;30:68-78
  • 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;333:288-93
  • 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;64:801-7
  • Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347-52
  • Bouwman MG, de Ru MH, Linthorst GE, et al. Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening. Mol Genet Metab 2013;109:201-7
  • Lidove O, Kaminsky P, Hachulla E, et al. Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). Clin Genet 2012;81:571-7
  • Michels H, Mengel E. Lysosomal storage diseases as differential diagnoses to rheumatic disorders. Curr Opin Rheumatol 2008;20:76-81
  • Pagnini I, Borsini W, Cecchi F, et al. Distal extremity pain as a presenting feature of Fabry's disease. Arthritis Care Res (Hoboken) 2011;63:390-5
  • Marchesoni CL, Roa N, Pardal AM, et al. Misdiagnosis in Fabry disease. J Pediatr 2010;156:828-31
  • Zizzo C, Colomba P, Albeggiani G, et al. Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. Clin Genet 2013;83:576-81
  • 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 2013; published online, doi:jmedgenet-2013-101857 [pii]; 10.1136/jmedgenet-2013-101857 [doi]
  • 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;97:1957-60
  • Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 2004;110:1047-53
  • 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;40:788-94
  • Deduve C. From cytases to lysosomes. Fed Proc 1964;23:1045-9
  • Dawson G, Kruski AW, Scanu AM. Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res 1976;17:125-31
  • Burton JO, Dormer JP, Binns HE, Pickering WP. Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease. BMC Nephrol 2012;13:73
  • Schiffmann R, Kopp JB, Austin HA III, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9
  • 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
  • Shen JS, Meng XL, Moore DF, et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 2008;95:163-8
  • Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008;105:2812-17
  • Brakch N, Dormond O, Bekri S, et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J 2010;31:67-76
  • Chevrier M, Brakch N, Celine L, et al. Autophagosome maturation is impaired in Fabry disease. Autophagy 2010;6:589-99
  • Lucke T, Hoppner W, Schmidt E, et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 2004;82:93-7
  • Wang S, Kaufman RJ. The impact of the unfolded protein response on human disease. J Cell Biol 2012;197:857-67
  • Altarescu G, Chicco G, Whybra C, et al. Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease. J Inherit Metab Dis 2008;31:117-23
  • Rohard I, Schaefer E, Kampmann C, et al. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. J Inherit Metab Dis 2008;31(Suppl 2):S349-56
  • Linthorst GE, Poorthuis BJ, Hollak CE. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results. J Am Coll Cardiol 2008;51:2082-3
  • Woywodt A, Hellweg S, Schwarz A, et al. A wild zebra chase. Nephrol Dial Transplant 2007;22:3074-7
  • Kuipers R, van den Bergh T, Joosten HJ, et al. Novel tools for extraction and validation of disease-related mutations applied to Fabry disease. Hum Mutat 2010;31:1026-32
  • Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomark 2010;14:533-7
  • Lukas J, Giese AK, Markoff A, et al. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet 2013;9:e1003632
  • Keeling L, Suvarna SK, Hughes DA. Female Anderson-Fabry disease mimicking hypertrophic cardiomyopathy. J Clin Pathol 2011; published online, doi:jclinpath-2011-200166 [pii]; 10.1136/jclinpath-2011-200166 [doi]
  • 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
  • Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-57
  • Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008;94:153-8
  • El Dib RP, Nascimento P, Pastores GM. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2013;2:CD006663
  • Ortiz A, Oliveira JP, Wanner C, et al. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol 2008;4:327-36
  • Hughes DA, Malmenas M, Deegan PB, et al. Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet 2012; published online, doi:jmedgenet-2011-100407 [pii]; 10.1136/jmedgenet-2011-100407 [doi]
  • Aerts JM, Hollak CE, van BM, et al. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr Suppl 2005;94:43-6
  • Chien YH, Bodamer OA, Chiang SC, et al. Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. J Inherit Metab Dis 2012; published online; doi:10.1007/s10545-012-9547-1 [doi]
  • 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;50:2399-403
  • Wilson JMG, Junger G. Principles and practive of screening for disease. World Health Organisation; Geneva: 1968; Report No.: No. 34
  • 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;2:450-6
  • 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;5:2220-8
  • Brouns R, Thijs V, Eyskens F, et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010;41:863-8
  • Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, et al. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” alpha-galactosidase a large deletion. Mol Genet Metab 2011;104:314-18
  • Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-11
  • 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;12:535-40
  • Terryn W, Deschoenmakere G, De KJ, et al. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. Int J Cardiol 2012; published online, doi:S0167-5273(12)00860-1 [pii]; 10.1016/j.ijcard.2012.06.069 [doi]
  • Linthorst GE, Hollak CE, Korevaar JC, et al. Alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 2003;18:1581-4
  • Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004;15:1323-9
  • Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron Clin Pract 2005;101:c33-8
  • Ichinose M, Nakayama M, Ohashi T, et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 2005;9:228-32
  • Merta M, Reiterova J, Ledvinova J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007;22:179-86
  • Porsch DB, Nunes AC, Milani V, et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail 2008;30:825-30
  • 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;22:287-92
  • Gaspar P, Herrera J, Rodrigues D, et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet 2010;11:19
  • Wallin EF, Clatworthy MR, Pritchard NR. Fabry disease: results of the first UK hemodialysis screening study. Clin Nephrol 2011;75:506-10
  • Nishino T, Obata Y, Furusu A, et al. Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients. Ren Fail 2012;34:566-70
  • Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366:1794-6
  • 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
  • Rolfs A, Fazekas F, Grittner U, et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013;44:340-9

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.