Table 1.
Clinical work-up performed at each visit
| Organ/Domain | Investigation/Measure | Patients Receiving Work-Up (%) |
|---|---|---|
| Medical history (mandatory) | Date of birth, date of medical check-up, time of ERT start, enzyme compound, dose of ERT, frequency of ERT, changes in ERT dose, switch of enzyme compound, infusion rate, premedication, symptoms (diarrhea, abdominal pain, hypohidrosis, cornea verticillata, tinnitus, hearing loss, FD crisis, fatigue, chronic neuropathic pain, pain attacks, TIA, stroke, dyspnea, stress dyspnea, NYHA class, myocardial infarction, severe arrhythmia, pacemaker implantation), onset of symptoms, family history, current medication, dose of current medication | 100 |
| Physical examination (mandatory) | Routine examination, height, weight, BP, heart rate, angiokeratoma | 99.1 |
| Cardiology | ||
| Mandatory | Electrocardiography, echocardiography (LVEDD, LVESD, LVSd, LVPWd, EF, diastolic function) | 98.3 |
| Optional | Cardiac MRI (standard, late enhancement imaging) | 45.5 |
| Neurology | ||
| Mandatory | Examination, history, polyneuropathy tests | 98.5 |
| Optional | Pain severity scores (CES-D, GCPS), quantitative sensoneurologic testing, biopsies (IEFND) | 46.3 |
| Nephrology | ||
| Mandatory | Albuminuria (albumin-to-creatinine ratio), eGFR (CKD-EPI), kidney transplantation, urine analysis | 97.8 |
| Optional | Cystatin C–based GFR | 65.3 |
| Laboratory | ||
| Mandatory | Enzyme activity, FD mutation, complete setting (including BNP, hemoglobin, electrolytes, cell count, cholesterol) | 100 |
| Disease severity scores (mandatory) | DS3, MSSI | 100 |
| Other disciplines (optional) | Otorhinolaryngology, dermatology, ophthalmology | 60.1 |
TIA, transient ischemic attack; NYHA, New York Heart Association; LVEDD, left ventricular end-diastolic diameter; LVESD, left ventricular end-systolic diameter; LVSd, left ventricular septum in diastole; LVPWd, left ventricular posterior wall in diastole; EF, ejection fraction; MRI, magnetic resonance imaging; CES-D, Center for Epidemiologic Studies-Depression scale; IEFND, intraepidermal nerve fiber density; CKD-EPI, CKD–Epidemiology Collaboration; BNP, brain natriuretic peptide; DS3, Disease Severity.