- Artikel
- Bron: Campus Sanofi
- 16 sep 2025
When to treat
Fabry disease is classified into two main phenotypes:2,4
- 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
Considerations for initiating ERT in each of the following:3
ERT should be considered and is appropriate in adult males with classic Fabry disease (symptomatic or asymptomatic)
Treatment decisions may be influenced by2:
- Advanced, elderly age of the patient
- Severe comorbidity
ERT should be considered in adult classic females upon early signs of renal, cardiac, CNS complications, pain, and GI issues2,6
Signs/symptoms suggesting major organ involvement2,6
Proteinuria/albuminuria not attributable to other causes, evidence of renal impairment
Symptomatic cardiac disease not due to other causes (dyspnea, palpitation, syncope, chest pain)
Stroke or TIA
Neuropathic pain, pain crises, Fabry disease neuropathy
Neuropathic pain, pain crises, Fabry disease neuropathy
Exercise intolerance and impaired sweating
Lab/histological/imaging evidence of injury to kidney, heart, or CNS2,6
GFR <90mL/min/1.73m2, adjusted for age >40 years, persistent albuminuria >30 mg/g, podocyte foot process effacement on renal biopsy Moderate or severe GL-3 inclusions in a range of renal cell types
Asymptomatic cardiac disease (cardiomyopathy or arrhythmia, cardiac fibrosis on contrast cardiac MRI)
Silent strokes, cerebral white matter lesions (on brain MRI)
Lab/histological/imaging evidence of injury to kidney, heart, or CNS2,6
GFR <90mL/min/1.73m2, adjusted for age >40 years, persistent albuminuria >30 mg/g, podocyte foot process effacement on renal biopsy Moderate or severe GL-3 inclusions in a range of renal cell types
Asymptomatic cardiac disease (cardiomyopathy or arrhythmia, cardiac fibrosis on contrast cardiac MRI)
Silent strokes, cerebral white matter lesions (on brain MRI)
How to diagnose Fabry
Think Fabry, think timely testing first.
Family screening
Think Fabry, think screening at-risk family members.
How to diagnose Fabry
Think Fabry, think timely testing first.
Family screening
Think Fabry, think screening at-risk family members.
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Wanner C et al. Mol Genet Metab. 2019;126(3)210-211.
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Ortiz A et al. Mol Genet Metab. 2018;123(4):416-427.
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Germain DP. Orphanet J Rare Dis. 2010;5:30.
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Arends M et al. Mol Genet Metab. 2017;121:157-161.
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Hopkin R et al. Mol Genet Metab. 2016;117:104-113.
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Biegstraaten M et al. Orphanet J Rare Dis. 2015;10:36.
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Spada M et al. Ital J Pediatr. 2017;43(1):1.
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Martins AM et al. J Pediatr. 2009;154(4 suppl):S19-S31.
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Hopkin RJ et al. Pediatr Res. 2008;64(5):550-555.
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Fabry Registry. Schedule of Assessments. NCT00196742
Neem contact op
MAT-BE-2500570 (ver. 1) 05/2025