When to treat

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 issues^2,5

Signs/symptoms suggesting major organ involvement^2,5

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 CNS^2,5

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 CNS^2,5

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)