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 |
| Â | Complete physical examination | Baseline, every 12 months |
| Â | Genetic counseling | Baseline, on request |
| Â | 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 |
| Â | ECG, echocardiography 2-D with Doppler | Baseline, every 12 months |
| Â | Holter monitoring | If an arrhythmia is suspected or palpitations are present |
| Â | Cardiac MRI | Every other year |
| Â | Coronary angiography | If clinical signs of angina |
Neurologic | Acroparesthesias, fatigue, fever, heat and cold tolerance, stroke-related symptoms, TIA | Baseline, every 12 months |
| Â | Neurologic examination, questionnaires (Brief Pain Inventory) | Baseline, every 12 months |
| Â | Brain MRI without contrast | Baseline At time of a TIA or stroke event In females to document CNS involvement Every 3 years |
| Â | Magnetic resonance angiography | If cerebral vasculopathy should be excluded |
| Â | 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 |
| Â | 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 |
| Â | 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 |