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. 2022 Jun 1;12(6):922.
doi: 10.3390/jpm12060922.

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Katarina Jurickova  1   2 , Petra Jungova  3 , Robert Petrovic  3 , Slavomira Mattosova  3 , Tereza Hlavata  4 , Ludmila Kostalova  1 , Anna Hlavata  1   2
Affiliations

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Katarina Jurickova et al. J Pers Med. .

Abstract

Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected. Hemizygous males are usually affected more severely, with an earlier manifestation of the symptoms. Rising awareness among health care professionals and more accessible diagnostics have positioned FD among the most-common inherited metabolic diseases in adults. An early and correct diagnosis of FD is crucial with a focus on personalised therapy. Preventing irreversible destruction of vital organs is the main goal of modern medicine. The aim of this study was to offer a complex report mapping the situation surrounding FD patients in Slovakia. A total of 48 patients (21 males, 27 females) with FD are registered in the Centre for Inborn Errors of Metabolism in Bratislava, Slovakia. In our cohort, we have identified three novel pathogenic variants in five patients. Three patients presented with the frameshift mutation c.736delA, and two others presented with the missense mutations c.203T>C, c.157A>C. Moreover, we present a new clinical picture of the pathogenic variant c.801+1G>A, which was previously described and associated with the renal phenotype.

Keywords: Fabry disease; diagnostics; genetic variants of GLA; lysosomal storage disorder; multisystemic manifestation; therapy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Pedigree of family with mutation c.128G>A.
Figure 2
Figure 2
Pedigree of family with mutation c.463G>C.
Figure 3
Figure 3
Pedigree of family with undescribed mutation c.736delA.
Figure 4
Figure 4
Pedigree of family with mutation c.98A>G.
Figure 5
Figure 5
Pedigree of family with mutation c.334C>T.
Figure 6
Figure 6
Pedigree of family with mutation c.758T>C.
Figure 7
Figure 7
Pedigree of family with GVUS c.427G>A (p.Ala143Thr).
Figure 8
Figure 8
Pedigree of family with GVUS c.427G>A (p.Ala143Thr).
See this image and copyright information in PMC

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