Monitoring disease progression

The following assessments enable you to evaluate your patients on a regular basis. In addition to monitoring GL-3 and lyso-GL-3, this guidance considers other important factors that can help you monitor the progression of Fabry disease.^1-6

These assessments are based on published guidelines and recommendations developed by the Fabry Registry Board of Advisors, a group of physicians who have experience in managing patients with Fabry disease. The Fabry Registry is sponsored by Sanofi.^3-7

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. Assessments appropriate to individual patients may vary depending upon the clinical judgment of the treating physician, and the patient's need.

Disease-related assessments for patients ≥18 years of age^1,7

*Frequency of assessment information is from the Fabry Registry Schedule of Assessments.

^aDirectly measuring glomerular filtration rate (GFR) is recommended if a more precise evaluation is desired.

^b24 hour or first morning void urine for protein, creatinine, and albumin.

^cIf electrocardiogram is abnormal and/or clinical symptoms arise, Holter monitoring is recommended.

^dAnnual 24-hour Holter monitoring is recommended for males 30 years of age or older and females 40 years of age or older.

^eCardiac MRI is recommended at Fabry diagnosis for patients ages 25 and older. It is recommended to be performed under age 25 if cardiac hypertrophy or significant arrhythmia is present.

^e1If first MRI is abnormal: 1) patients with moderate or severe left ventricular hypertrophy (LVH) receiving ERT should have MRI annually; 2) patients with significant arrhythmia should have MRI at least every 2 years or at frequency factoring cardiac disease severity and the physician’s clinical judgment; 3) males with no or mild LVH receiving ERT should have MRI every 2 years.

^e2If first MRI is normal, repeat every 5 years or earlier if ECG/ECHO results are abnormal on annual exam.

^fIf spirometry is abnormal, perform yearly.

^gAt the time of an event, a cranial MRI should also include diffused weighted images and DWI/ADC.

^hMonitor yearly if retinal vessel tortuosity noted.