A multidisciplinary approach to Fabry disease care

Symptom management may help to reduce the burden of Fabry disease. The coordination of care involves a multidisciplinary approach which may include a geneticist, genetic counselor, nephrologist, neurologist, and cardiologist, as well as other healthcare professionals.1

It's important that each specialist monitor patients with Fabry disease for emergence of new symptoms as well as tracking existing symptoms. The Fabry disease Schedule of Assessments provides guidance on monitoring symptoms in patients with Fabry.

Importance of assessments in monitoring disease progression

Monitoring patients with Fabry disease by routinely assessing their condition can help monitor development of new symptoms and disease progression, prompting timely disease management. The Fabry Registry Board of Advisorshas developed a minimum schedule of assessments for patients both under 18 years of age and over 18 years of age. The Fabry Registry is sponsored and administered by Sanofi Genzyme.

Routine monitoring for new or worsening symptoms is key to prompt disease management

Routine monitoring of females with Fabry is particularly important. Patients may be asymptomatic initially, but eventually they will develop symptoms over time.

Patients 18 Years of Age and Younger²*

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.

 

a   Patients are recommended to undergo these evaluations every 6 months; for those with milder
     disease, once per year may be sufficient.
b   Blood pressure should be measured 3 times at each assessment; only the last 2 measurements
     should be recorded.
c   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.
d   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).
e    Audiologic evaluation should be performed at the earliest age that is practical.
f    Cranial MRIs should be performed at ages 10, 15, and 18 years. f1  At the time of a cerebrovascular
     event, a cranial MRI should also include diffused weighted images and apparent
     diffusion coefficient (DWI/ADC).
g   Electrocardiogram should be performed starting at age 10-12 years. If abnormal and/or
     clinical symptoms arise, Holter monitoring is recommended.
h   Echocardiogram should be performed starting at age 10-12 years.
i    Cardiac MRI is recommended to be performed in patients under age 25 if cardiac hypertrophy
     significant arrhythmia is present.
j    Monitor yearly if retinal vessel tortuosity is noted.

 

Patients 18 Years of Age and Over²

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.

a   Directly measuring glomerular filtration rate (GFR) is recommended if a more precise evaluation is desired.
b   24-hour or first morning void urine for protein, creatinine, and albumin.
c    At the time of an event, a cranial MRI should also include DWI/ADC.
d   If electrocardiogram is abnormal and/or clinical symptoms arise, Holter monitoring is recommended.
e    Annual 24-hour Holter monitoring is recommended for males 30 years of age or older and females 40 years of age or older.
f   Cardiac 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.

     f1 If first MRI is abnormal: 1) patients with moderate or severe 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 zreceiving ERT should have MRI every 2 years.
      f2 If first MRI is normal, repeat every 5 years or earlier if ECG/ECHO results are abnormal on annual exam.
g   If spirometry is abnormal, perform yearly.
h   Monitor yearly if retinal vessel tortuosity noted.

References

1. Peters FPJ, et al. Postgrad Med J. 1997;73(865):710-712. 2. Fabry Registry Recommended Schedule of Assessments 2015. Available at: https://www.fabrydisease.org/images/ReferencePDFs/fabry-registry-schedule-of-assessments.pdf. Accessed June 13, 2018.