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Fabry disease

Author : Sanofi
Editorial team

Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).

Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).

This accumulation occurs in a variety of cell types and can lead to debilitating symptoms such as neurological pain, angiokeratoma, hypohidrosis in childhood, in girls usually a few years later than in boys. With age, progressive damage to the vital organs develops in both sexes that leads to organ failure. End-stage kidney disease and life-threatening cardiovascular or cerebrovascular complications limit life expectancy.

Although the disease is X-linked, most women develop symptoms. Fabry disease is pan-ethnic. Newborn screenings report frequencies of 1 in 22,570 men for the classic phenotype and of 1 in 1,390 men for the late-onset phenotype.1-3

Fabry disease is classified into two main phenotypes:1,3,4

  • Classic – absent of very low α-GAL A activity, multiple-organ systems involved, presentation generally begins in childhood
  • Nonclassic – also referred to as late-onset, varying levels of residual α-GAL A activity and symptoms are more variable, most frequently beginning in adulthood
GL-3_Accumulation_Graph

classic-male-image

α-GAL A, α-galactosidase A; GLA, galactosidase alpha; GL-3, globotriaosylceramide.

Irreversible damage to multiple vital organs can cause renal, cardiovascular, and cerebrovascular complications if Fabry disease is left untreated.1,3,6

Multisystemic signs and symptoms

Patients with Fabry disease experience an approximated 16-year reduction in lifespan for males and a 5- to 14-year reduction for females compared with the general population14-16

Safety

  1. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30.

  2. Germain D., Fabry Disease. Orphanet encyclopedia, March 2022, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=324

  3. Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: management and treatment recommendations for adult patients. Molecular genetics and metabolism 123.4 (2018): 416-427.

  4. Arends M et al. Mol Genet Metab. 2017;121:157-161.

  5. Eng CM et al. J Inherit Metab Dis. 2007;30(2):184-192.

  6. Wanner C et al. Mol Genet Metab. 2019;126(3):210-211. 

  7. Lidove O et al. Intl J Clin Pract. 2006;60(9):1053-1059.

  8. Burlina A et al. BMC Neurol. 2011;11(61).

  9. Sodi A et al. Br J Ophthalmol. 2007;91(2):210-214.

  10. Zarate Y, Hopkin R. Lancet. 2008;372:1427-1435

  11. Yousef Z et al. Eur Heart J. 2013;34(11):802-808

  12. Linhart A et al. J Inherit Metab Dis. 2001;24(2):75-83.

  13. Shi Q et al. J Stroke Cerebrovasc Dis. 2014;25(5):985-992.

  14. Waldek S et al. Genet Med. 2009;11(11):790-796. 

  15. Mehta A et al. J Med Genet. 2009;46(8):548-552. 

  16. Arias E et al. NVSS Vital Statistics Rapid Release Report No. 015. 2021;1-12. Available at: https://www.researchgate.net/publication/362689060_Provisional_Life_ Expecta ncy_Estimates_for_2020. Accessed: May 2024.

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