Renal involvement in Fabry disease
Think Fabry, think renal involvement that may present early in life and could go undetected.


Adapted from Schiffmann R et al, 2009; Ortiz A et al, 2008; Germain DP, 2010; Ramaswami U et al, 2010; Eng CM et al, 2006; Tøndel C et al, 2013; and Banikazemi M et al, 2007.1,2,4,6-9
*Accumulation of GL-3 starts in utero.3
ESRD, end-stage renal disease; GL-3, globotriaosylceramide.
- Early and progressive GL-3 accumulation can lead to irreversible organ damage and potentially life-threatening clinical events2
- Renal damage may occur with podocyte injury, starting as early as the first decade of life, despite minimal or normal microalbuminuria3,4
- Renal biopsy can provide direct assessment of the level of pathological structural changes and may help guide the decision of when to initiate treatment11
Fabry disease patients with renal involvement can progress to ESRD within 4 years*,10,11
Screen for Fabry disease if you see unexplained CKD**,12
Screen those with unexplained CKD aged:12
<50 years old, male

Any age, female


Especially if they have:12,13

Hypohidrosis

Angiokeratoma

Acroparesthesia

Family history

Heat/cold intolerance

LVH

* Progression from CRI to ESRD. Of 115 patients, 39 developed CRI. The median age of CRI onset was 42 years (range, 19–54 years) among the 33 patients for whom data for age of onset were available. 24 patients developed ESRD at a median age of 47 years (range, 21–56 years). Time of progression from onset of CRI to ESRD was 4 ± 3 years (range, 1–13 years) in 14 patients for whom ages of onset of both CRI and ESRD were available.10
** Recommended by European Renal Best Practice, the official guideline body of the European Renal Association/European Dialysis and Transplant Association.12
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Germain DP. Orphanet J Rare Dis. 2010;5:30.
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Eng CM et al. Genet Med. 2006;8(9):539-548.
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Tøndel C et al. Nephron. 2015;129(1):16-21.
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Tøndel C et al. J Am Soc Nephrol. 2013;24(1):37-148.
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Hopkin JR et al. Mol Genet Metab. 2016;117(2):104-113.
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Schiffmann R et al. Nephrol Dial Transplant. 2009;24(7):2102-2111.
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Ortiz A et al. Nephrol Dial Transplant. 2008;23(5)1600-1607.
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Ramaswami U et al. Clin J Am Soc Nephrol. 2010;5(2):365-370.
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Banikazemi M et al. Ann Intern Med. 2007;146(2):77-86.
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Branton M et al. Medicine 2002; 812: 122–138.
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Bernandes T et al. Rev Assoc Med Bras 2020; 66(SUPPL1): S10–S16.
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Terryn W et al. Nephrol Dial Transplant 2013; 28: 505–517.
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Arbelo E et al. Eur Heart J 2023; 44(37): 3503–3626.