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Table 3 Guidelines for baseline examination and follow-up of patients affected with Fabry disease

From: Fabry disease

Organ/system Assessment Guidelines
General General status, quality of life (SF36® Health survey, EuroQOL or PedsQL® measurement mode), school or work performance, depression, anxiety, drug use, somatic growth Baseline (at first visit), every 12 months
  Complete physical examination Baseline, every 12 months
  Genetic counseling Baseline, on request
  Alpha-galactosidase A activity and genotype If not previously performed or determined
Kidney Serum creatinine, ionogram, BUN; morning spot urine for urinary protein/creatinine ratio and albumin/creatinine ratio
Urinary Gb3 (optional)
Baseline. Every 3 months if CKD stage 1 or 2 and >1 g/day of proteinuria or CKD stage 4
Every 6 months if CKD stage 3
Every 12 months if CKD stage 1 or 2 and <1 g/day of proteinuria
Cardiac Palpitations, angina
Blood pressure, rhythm
Baseline, every 6 months
Every evaluation visit
  ECG, echocardiography 2-D with Doppler Baseline, every 12 months
  Holter monitoring If an arrhythmia is suspected or palpitations are present
  Cardiac MRI Every other year
  Coronary angiography If clinical signs of angina
Neurologic Acroparesthesias, fatigue, fever, heat and cold tolerance, stroke-related symptoms, TIA Baseline, every 12 months
  Neurologic examination, questionnaires (Brief Pain Inventory) Baseline, every 12 months
  Brain MRI without contrast Baseline
At time of a TIA or stroke event
In females to document CNS involvement
Every 3 years
  Magnetic resonance angiography If cerebral vasculopathy should be excluded
  Comorbid stroke risk factors: Cholesterol (Total, LDL, HDL), triglycerides, Lpa, total plasma homocysteine Baseline, every 12-24 months
ENT Tinnitus, hearing loss, vertigo, dizziness Baseline, every 6 months
  Audiometry, tympanometry, otoacoustic emissions Baseline, every 12 months thereafter
Ophthalmologic General ophthalmologic exam (slit-lamp, direct ophthalmoscopy, best corrected visual acuity, visual fields) Baseline, every 12-24 months
Pulmonology Cough, exertional dyspnea, wheezing, exercise intolerance Baseline, every 12 months
  Spirometry If clinical signs
Gastrointestinal Postprandial abdominal pain, bloating, diarrhea, nausea, vomiting, early satiety, difficulty gaining weight
Endoscopic evaluations
Baseline, every 12 months
If symptoms persist or worsen despite treatment
Skeletal Bone mineral density, 25(OH) vitamin D levels Baseline
  1. CKD stages: 1: GFR > 90 mL/min/1.73 m2; 2: 60<GFR < 89 mL/min/1.73 m2; 3: 30<GFR < 59 mL/min/1.73 m2; 4: 15<GFR < 29 mL/min/1.73 m2; 5: GFR < 15 = mL/min/1.73 m2 or end stage renal disease (ESRD) (dialysis or transplantation).