Anderson-Fabry disease and gastrointestinal tract involvement

Czech version

Authors: Dostálová G. ¹; Roblová L. ¹; Reková P. ²; Rob D. ¹; Marek J. ¹; Kodet O. ³; Dubská Z. ⁴; Linhart A. ¹
Authors‘ workplace: II. interní klinika – klinika kardiologie a angiologie 1. LF UK a VFN, Praha ¹; Neurologická klinika 1. LF UK a VFN v Praze ²; Dermatovenerologická klinika 1. LF UK a VFN v Praze ³; Oční klinika 1. LF UK a VFN v Praze ⁴
Published in: Gastroent Hepatol 2020; 74(2): 158-162
Category: Chapters from Internal Medicine: Case report
doi: https://doi.org/10.14735/amgh2020158

Overview

Anderson-Fabry disease (AFD) is a relatively rare X-linked hereditary storage disorder, caused by mutation of the gene for α-galaktosidase A (α-Gal A). Low or even zero level activity of the enzyme α-Gal A caused accumulation of glycosphingolipids in lysosomes. This lysosomal storage causes cell dysfunction and subsequent organ malfunction. AFD patients suffer from renal, cardiac, vessel and neurological symptoms, last but not least from skin and gastrointestinal involvement. Enzyme replacement therapy has been shown effective, with earlier diagnosis resulting in better outcomes in patients with AFD.

Keywords:

Anderson-Fabry disease – lysosomal storage – diarrhoea – Electron microscopy

Sources

1. 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(3): 236–242. doi: 10.1111/ j.1365-2362.2004.01309.x.

2. Meikle PJ, Hopwood JJ, Clauge AE et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281(3): 249–254. doi: 10.1001/ jama.281.3.249.

3. Anderson W. A case of „angio-keratoma“. Br J Dermatol 1898; 10(4): 113–117.

4. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebra). Arch Dermatol Syphilol (Berlin) 1898; 43 : 187–201.

5. Hopkin RJ, Bissler J, Banikazemi M et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008; 64(5): 550–555. doi: 10.1203/ PDR.0b013e318183f132.

6. Kanda A, Nakao S, Tsuyama S et al. Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits. Virchows Arch 2000; 436(1): 36–42. doi: 10.1007/ pl00008196.