Table 1 General- and Fabry-associated characteristics, biomarkers, renal function and quality of life of the index patient
Variables | Index patient | Reference values |
|---|---|---|
Demographics | ||
Age at first visit (years) | 44 | |
Body-mass-index (kg/m2) | 20.7 | |
Biomarkers | ||
Lyso-Gb3 (ng/ml) | 30.2 | <0.9 |
α-Gal A (nmol/min/mg protein) | 0.26 | 0.4–1.0 |
NT-proBNP (pg/ml) | 325 | 0–153 (age-dependent) |
hs-TnT (pg/ml) | <5 | 0–14 |
Renal | ||
Serum-Creatinine (mg/dl) | 0.80 | 0–0.95 |
Cystatin C (mg/l) | 0.76 | 0.61–0.95 |
GFR DTPA Clearance (ml/min) | 90 | 90–150 |
Fabry associated | ||
Angiokeratoma | none | |
Cornea verticillata | yes | |
Impaired sweating | yes | |
Vertigo | yes | |
Tinnitus | yes | |
Frequent diarrhea | yes | |
Constipation | none | |
Abdominal pain | none | |
Abdominal cramps | none | |
Nausea/vomiting | none | |
Medication | ||
ERT | Agalsidase beta | |
Beta blocker | none | |
ACEi/ARBs | none | |
Ca-blockers | none | |
Diuretics | none | |
ASA/OAC | yes | |
Quality of life (SF-36 questioner) | ||
Physical functioning | 75 | |
Role physical | 0 | |
Bodily pain | 100 | |
General health | 45 | |
Vitality | 20 | |
Social functioning | 12.5 | |
Role emotional | 100 | |
Mental health | 48 | |
Physical component summary score | 41.61 | |
Mental component summary score | 35.17 | |