Signs and Symptoms
Pathophysiology
Signs and symptoms of Fabry disease are multi-systemic and increase in number and severity over time. Lack of sufficient α-galactosidase (α-GAL) activity leads to progressive accumulation of the glycosphingolipids globotriaosylceramide (denoted GL3 or Gb3) and globotriaosylsphingosine (lyso-GL3 or lyso-Gb3) within lysosomes in a variety of cell types, including vascular endothelium, podocytes, arterial smooth muscle cells, and cardiomyocytes.11,12
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References:
1. Wilcox WR, et al. Mol Genet Metab. 2008;93(2):112–128. 2. NIH US National Library of Medicine https://ghr.nlm.nih.gov/gene/GLA#location. Accessed Mar 2018. 3. Weidemann F, et al. Ann Rev Med. 2011;62:59–67. 4. Desnick RJ, et al. Ann Intern Med. 2003;138(4):338–346. 5. Niemann M, et al. JACC Cardiovasc Imaging. 2011;4(6):592–601. 6. Veloso VSP, et al. Nephron. 2018;138(2):147–156. b Ortiz A, et al. Mol Genet Metab. 2018;123(4):416–427. 8. MacDermot KD, et al. J Med Genet. 2001;38(11):750–760. 9. MacDermot KD, et al. J Med Genet. 2001;38(11):769–775. 10. Park JY, et al. Exp Mol Med. 2009;41(1):1–7. 11. Germain DP. Orphanet J Rare Dis. 2010;5:30. 12. Zarate YA, Hopkin RJ. Lancet. 2008;372(9647):1427–1435.
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