When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.1,2
Fabry disease is classified into two main phenotypes:2,4
- Classic – absent or 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 issues2,5
Signs/symptoms suggesting major organ involvement2,5
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 CNS2,5
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 CNS2,5
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)
- 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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Biegstraaten M et al. Orphanet J Rare Dis. 2015;10:36.
Relaterade Artiklar
Fabry disease
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).
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