Fabry disease in Serbia – current status and future perspectives

Dejan Ćelić; Dušan Božić; Tatjana Ilić; Violeta Knežević; Sonja Golubović; Siniša Živković; Bojana Ljubičić; Radomir Naumović; Igor Mitić

doi:10.2298/VSP200228071C

Dejan Ćelić University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Emergency Medicine Center, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Dušan Božić University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Emergency Medicine Center, Novi Sad, Serbia University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Tatjana Ilić University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Emergency Medicine Center, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Violeta Knežević University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Sonja Golubović University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Siniša Živković University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Bojana Ljubičić University Clinical Center of Vojvodina, Emergency Medicine Center, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
Radomir Naumović University Clinical Hospital Center Zvezdara, Clinical Department for Nephrology and Metabolic Disorders with Dialysis, Belgrade, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Igor Mitić University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia

DOI: https://doi.org/10.2298/VSP200228071C

Keywords: fabry disease;, genetic diseases, inborn;, diagnosis;, signs and symptoms;, therapeutics; serbia.

Author Biography

Dejan Ćelić, University Clinical Center of Vojvodina, Clinic for Nephrology and Clinical Immunology, Emergency Medicine Center, Novi Sad, Serbia; University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia

Docent na Katedri za internu medicinu

References

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic deffect in Fabry disease. Ceramidetrihexosidase defficiency. N Engl J Med 1967; 276(21): 1163‒7.

2. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, et al, editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014.

3. Anderson W. A case of “angiokeratoma”. Br J Dermatol 1898; 10: 113‒7.

4. Fabry J. A contribution to the knowledge of the purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898; 43: 187‒200. (German)

5. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 2018; 123(4): 416‒27.

6. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet 2016; 89(1): 44‒54.

7. Oliveira JP, Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype – phenotype correlations. Appl Clin Genet 2019; 12: 35‒50.

8. Schiffmann R, Fuller M, Clarke LA, Aerts JM. Is it Fabry disease? Genet Med 2016; 18(12): 1181‒5.

9. 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(11): 790‒6.

10. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A. Beck M, et al. Natural course of Fabry disease:changing pattern of causes of death in FOS – Fabry Outcome Survey. J Med Genet 2009; 46(8): 548‒52.

11. Germain PD. Fabry disease. Orphanet J Rare Dis 2010; 5: 30.

12. Sunder-Plassman G, Födinger M. Diagnosis of Fabry disease: the role of screening and case-finding studies. In: Mehta A, Beck M, Sunder-Plassman G, editors. Fabry disease: perspectives from 5 years of Fabry Outcome Survey. Oxford: Oxford PharmaGenesis; 2006. Chapter 17.

13. Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, et al. Fabry Nephropathy: An Evidence-Based Narrative Review. Kidney Blood Press Res 2018; 43(2): 406‒21.

14. Pisani A, Visciano B, Imbriaco M, Di Nuzzi A, Mancini A, Marchetiello C, et al. The Kidney in Fabry disease. Clin Genet 2014; 86(4): 301‒9.

15. Vujkovac B. Fabry disease: diagnostic methods in nephrology practice. Clin Nephrol. 2017; 88(1Suppl 13): S44‒7.

16. Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, Bruzzese D, Feriozzi S, et al. Parapelvic cysts: a distinguishing feature of renal Fabry disease. Nephrol Dial Transpl 2018; 33(2): 318‒23.

17. Shimomata H, Ogawa Y, Maruyama H, Hirayama K, Kobayashi M. A renal variant of Fabry disease diagnosed by the presence of urinary mulberry cells. Intern Med 2016; 55(23): 3475‒8.

18. Choung HYG, Jean-Gilles J, Goldman B. Myeloid bodies is not an uncommon ultrastructural finding. Ultrastruct Pathol 2022; 46(1): 130‒8.

19. Colpart P, Félix S. Fabry nephropathy. Arch Pathol Lab Med 2017; 141(8): 1127‒31.

20. Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol 2021; 77(7): 922‒36.

21. Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, et al. Fabry disease in cardiology practice: Literature review and expert point of view. Arch Cardiovasc Dis 2019; 112(4): 278‒87.

22. Namdar M. Electrocardiografic changes and arrhythmia in Fabry disease. Front Cardiovasc Med 2016; 3: 7.

23. Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, et al. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. Lancet Child Adolesc Health 2018; 2(1): 56‒68.

24. Marchesoni C, Cisneros E, Pfister P, Yáñez P, Rollan C, Romero C, et al. Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci 2018; 395: 131‒4.

25. Popis 2011. Republički zavod za statistiku Srbije. Available from: https://data.stat.gov.rs/sr-Latn/oblasti/popis/popis-2011/

26. Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, et al. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol 2016; 20(2): 284‒93.

27. Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, et al. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Genet Med 2019; 21(1): 44‒52.

28. Seo J, Kim M, Hong GR, Kim DS, Son JW, Cho IJ, et al. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. J Hum Genet 2016; 61(9): 775‒80.

29. Nakagawa N, Sawada J, Sakamoto N, Takeuchi T, Takahashi F, Maruyama JI, et al. High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations. J Hum Genet 2019; 64(9): 891‒8.

30. 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(4): 261‒8.

31. Annual Report 2015. July 2017-ERA-EDTA Registry. Available from: https://www.era-edta-reg.org/files/annual reports/pdf/Ann Rep 2016.pdf

32. Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis 2015; 10: 36.