Diagnosis and Screening of Patients with Fabry Disease

Figures & data

Figure 1 Updated diagnostic algorithm for FD. Adapted with permission from 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;51:1–9. Copyright © 2014, BMJ Publishing Group Ltd.¹⁰ Adapted with permission from 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. © 2017 Canadian Cardiovascular Society.²⁷ Adapted with permission from Putko BN, Wen K, Thompson RB, et al. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev. 2015;20:179–191. Copyright © 2014, Springer Nature.⁴⁹ Adapted with permission from 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. © 2013 National Society of Genetic Counselors, Inc.⁴³ Data from Niemann et al ⁴⁸ and Putko et al.⁴⁹ α-Galactosidase A (α-Gal A), α-galactosidase A gene (GLA gene), globotriaosysphingosine (Lyso-Gb3), left ventricular (LV). *Punch biopsy, taken from proximal (thigh: 15 cm above the patella) and distal (leg: 10 cm above the lateral malleolus) hairy skin sites or from other lesions to evaluate Gb3 deposits, and for other histopathological evaluations.³¹

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

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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

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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

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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

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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

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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

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