The Recommended Schedule of Assessments represents the core Fabry disease-related assessments that allow evaluation of a patient's disease progression over time. Physicians will determine the actual frequency of necessary assessments according to a patient's individualized need for medical care and routine follow-up.
* Initiation of Laboratory Tests, Imaging, and Other Studies: There is variability in the clinical complications and progression of Fabry disease. Children are at risk for life-threatening complications. There are no biomarkers available to discern mildly affected from severely affected patients. In children with a family history of early presenting or severe disease, complete evaluations should be done at the time of diagnosis. Other patients should be completely evaluated at no later than 5 years of age.
- Patients are recommended to undergo these evaluations every 6 months; for those with milder disease, once per year may be sufficient.
- Blood pressure should be measured 3 times at each assessment; only the last 2 measurements should be recorded.
- GFR should be measured directly every 24-36 months until age 15, and annually thereafter. If direct measurement is not possible, serum creatinine levels should be obtained at the recommended intervals for an estimation of GFR, which is a less sensitive method.
- First morning voided urine for protein, albumin, and creatinine in order to calculate a protein/creatinine ratio and albumin/creatinine ratio. Protein, albumin, and creatinine measurements can also be performed on timed samples (e.g., 24 hours).
- Audiologic evaluation should be performed at the earliest age that is practical.
- Cranial MRIs should be performed at ages 10, 15, and 18 years.
||At the time of a cerebrovascular event, a cranial MRI should also include diffused weighted images and apparent diffusion coefficient (DWI/ADC).
- Electrocardiogram should be performed starting at age 10-12 years. If abnormal and/or clinical symptoms arise, Holter monitoring is recommended.
- Echocardiogram should be performed starting at age 10-12 years.
- Cardiac MRI is recommended to be performed in patients under age 25 if cardiac hypertrophy or significant arrhythmia is present.
- Monitor yearly if retinal vessel tortuosity is noted.