Table 7.

Recommended Surveillance for Individuals with Fabry Disease

System/ConcernEvaluationFrequency
General Assess for angiokeratomas, acroparesthesia, sweating abnormalities, & gastrointestinal manifestations.Annually starting by age ~7 yrs or earlier if symptomatic
Assess for pulmonary & vascular manifestations.Annually starting by age 18 yrs or earlier if symptomatic
Cardiac
  • Cardiology eval
  • EKG
  • Echocardiogram
  • Annually in males beginning at age 18 yrs
  • Every 2 yrs in females from age 18 to ~35 yrs
Neurologic Neurologic assessmentAnnually
Brain MRI/MRAEvery 2-3 yrs beginning at age 18 yrs (more frequently if symptomatic)
Renal Renal function studies incl BUN, creatinine, & urinalysisAnnually beginning at age 18 yrs or more frequently as needed
Hearing Audiologic eval
  • Annually in males beginning at age 18 yrs
  • 2x/yr in females from age 18 to 35 yrs (more frequently if symptomatic)
Psychiatric Psychologic assessmentAnnually beginning at age 18 yrs (or more frequently as needed)

BUN = blood urea nitrogen

From: Fabry Disease

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