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Review
. 2018 Dec;94(1118):709-713.
doi: 10.1136/postgradmedj-2018-136056. Epub 2018 Dec 17.

Hot topics in Fabry disease

Tereza Cairns  1 , Jonas Müntze  1 , Judith Gernert  1 , Lisa Spingler  1 , Peter Nordbeck  1 , Christoph Wanner  2
Affiliations
Review

Hot topics in Fabry disease

Tereza Cairns et al. Postgrad Med J. 2018 Dec.

Abstract

Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement therapy (ERT) has become widely available in 2001. With rising awareness and rising numbers of (diagnosed) patients, physicians encounter new challenges. Over 900 α-Gal gene mutations are currently known, some with doubtful clinical significance, posing diagnostic and prognostic difficulties for the clinician and a lot of uncertainty for patients. Another challenge are patients who develop neutralising antibodies to ERT, which possibly leads to reduced therapy effectiveness. In this article, we summarise the latest developments in the science community regarding diagnostics and management of this rare lysosomal storage disorder and offer an outlook to future treatments.

Keywords: Fabry disease; antibodies; biomarkers; multidisciplinary working.

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Conflict of interest statement

Competing interests: TC has received travel assistance from Genzyme/Sanofi. JM has received travel assistance and speaker honoraria from Genzyme/Sanofi and travel assistance from Amicus Therapeutics and Shire. JG and LS have nothing to declare. PN has received honoraria for lecturing and advisory board participation from Amicus Therapeutics, Genzyme/Sanofi and Shire. CW has received honoraria for lecturing and advisory board participation from Genzyme/Sanofi, Actelion and Protalix and Shire. Research grants were given to the Institution from Genzyme/Sanofi and Shire.

Figures

Figure 1
Figure 1
Patient journey in FAZiT. ERT:enzyme replacement therapy.
Figure 2
Figure 2
Specialist investigations. ENT, ear, nose and throat; LFT, liver function tests; FBC, full blood count; TSH, thyroid stimulating hormone; BNP, brain natriuretic peptide; MRI, magnetic resonance imaging; ACR, albumin-creatinine-ratio; PCR, protein-creatinine-ratio.
See this image and copyright information in PMC

References

    1. Desnick RJ, Astrin KH, Bishop DF. Fabry disease: molecular genetics of the inherited nephropathy. Adv Nephrol Necker Hosp 1989;18:113–27. - PubMed
    1. Burlina AB, Polo G, Salviati L, et al. . Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. J Inherit Metab Dis 2018;41:209–19. 10.1007/s10545-017-0098-3 - DOI - PubMed
    1. 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. 10.1161/CIRCGENETICS.109.862920 - DOI - PubMed
    1. Inoue T, Hattori K, Ihara K, et al. . Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 2013;58:548–52. 10.1038/jhg.2013.48 - DOI - PubMed
    1. Mechtler TP, Stary S, Metz TF, et al. . Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. The Lancet 2012;379:335–41. 10.1016/S0140-6736(11)61266-X - DOI - PubMed