Table 1. Baseline characteristics of study participants in the total sample and stages of Fabry cardiomyopathy.
| Total | Early stage | Intermediate stage | Severe stage | P-value (ANOVA) | |
|---|---|---|---|---|---|
| Clinical characteristics | |||||
| N (baseline) | 74 | 39 | 23 | 12 | - |
| Age (years) | 36 ± 12 | 32 ± 13 | 37 ± 8 | 46 ± 10 † ‡ | 0.01 |
| Female [n (%)] | 45 (61) | 27 (69) | 13 (56) | 5 (42) | - |
| N (follow-up) | 46 | 17 | 19 | 10 | - |
| Follow Up (months) | 47 (29–67) | 42 (24–59) | 47 (30–67) | 43 (30–73) | 0.95 |
| Height (cm) | 171 ± 9 | 169 ± 8 | 171 ± 6 | 173 ± 11 | 0.96 |
| Weight (kg) | 68 ± 14 | 67 ± 13 | 69 ± 15 | 73 ± 16 | 0.32 |
| Heart rate (bpm) | 67 ± 12 | 68 ± 11 | 66 ± 12 | 67 ± 14 | 0.84 |
| SBP (mmHg) | 118 ± 15 | 115 ± 13 | 121 ± 16* | 125 ± 19‡ | 0.04 |
| DBP (mmHg) | 80 ± 11 | 78 ± 11 | 81 ± 10 | 84 ± 12‡ | 0.16 |
| a-Galactosidase activity (nmol/mg*mL) | 0.14 (0.02–0.26) | 0.17 (0.02–0.29) | 0.13 (0.17–0.21) | 0.12 (0.15–0.20) | 0.05 |
| Medication [n (%)] | |||||
| AT/ACE-inhibitors | 8 (11) | 1 (2.6) | 4 (17)* | 3 (25) ‡ | <0.001 |
| ß-blockers | 5 (6.8) | 2 (5.1) | 1 (4) | 2 (17) | 0.41 |
| Calcium antagonists | 1 (1.4) | 0 | 1 (2.9) | 0 | 0.47 |
| Kidney | |||||
| GFR (DTPA) (mL/min) | 108 (64–132) | 102 (86–133) | 112 (100–137) | 90 (56–119) | 0.87 |
| Proteinuria [n (%)] | 13 (18) | 4 (10) | 6 (26) | 3 (25) | - |
| Creatinine (mg/dL) | 0.80 (0.61–0.92) | 0.80 (0.60–0.91) | 0.71 (0.62–0.85) | 0.85 (0.74–1.21) | 0.04 |
| ACR (mg/g reatinine) | 240±245 | 195±203 | 284±301 | 303±276 | 0.43 |
| Kidney transplantation [n (%)] | 0 | 0 | 0 | 0 | - |
| Dialysis [n (%)] | 0 | 0 | 0 | 0 | - |
| Cardiovascular | |||||
| NYHA class [n (%)] | |||||
| I | 54 (73) | 33 (86) | 16 (69) | 5 (42) ‡ | 0.69 |
| II | 16 (22) | 4 (11) | 6 (26) | 6 (50) | - |
| III | 3 (4.1) | 1 (2.6) | 1 (4) | 1 (8) | - |
| IV | 0 | 0 | 0 | 0 | - |
| NT-proBNP (mg/dL) | 80 (39–844) | 68 (39–79) | 95 (27–290) | 121 (55–844)‡ | 0.01 |
| Hb (mg/dL) | 13.6 ± 1.1 | 13.6 ± 1.3 | 13.5 ± 0.9 | 13.6 ± 0.9 | 0.97 |
| Pain [n (%)] | |||||
| Neuropathic pain | 43 (58) | 20 (51) | 13 (56) | 10 (83) | - |
| Stress pain | 30 (41) | 14 (36) | 11 (47) | 5 (42) | - |
| Chronic pain | 20 (27) | 5 (13) | 7 (30) | 8 (67) ‡ | - |
| Pain crisis | 15 (20) | 6 (15) | 4 (17) | 5 (42) | - |
| Frequent use of analgetics | 14 (19) | 4 (10) | 6 (26) | 4 (33) | - |
| Neurological [n (%)] | |||||
| Vertigo | 21 (28) | 9 (23) | 5 (22) | 7 (58) ‡ | - |
| Tinnitus | 28 (38) | 10 (26) | 12 (52) | 6 (50) | - |
| Hearing loss | 15 (21) | 6 (15) | 6 (26) | 3 (25) | - |
| Depression | 7 (9.5) | 2 (5.1) | 3 (13) | 2 (17) | - |
| Cerebral insult | 4 (5.5) | 2 (5.1) | 1 (4) | 1 (8.3) | - |
| TIA | 3 (4.1) | 2 (5.1) | 1 (4) | 0 | - |
| Dysarthria | 0 | 0 | 0 | 0 | - |
| GI [n (%)] | |||||
| Diarrhoea | 29 (39) | 11 (28) | 9 (39) | 9 (75) ‡ | - |
| Gastric pain | 22 (30) | 8 (21) | 10 (43) | 4 (33) | - |
| Nausea | 13 (18) | 3 (7.7) | 6 (26) | 4 (33) ‡ | - |
Data in parenthesis are % of total
ACR, Albumine-creatinine-ratio
CM, cardiomyopathy
GI, gastrointestinal
TIA, transient ischemic attack
SBP, systolic blood pressure
DBP, diastolic blood presssure
AT, angiotensin
ACE, angiotensin converting enzyme
GFR, glomerular filtration rate
NYHA, New York Heart assosiation
NT-proBNP, N-terminal of brain natriuretic peptide
Hb, haemoglobin.
Significance at level 0.05 is indicated by
* for early vs. intermediate stage
† for intermediate vs. severe stage
‡ for early vs. severe stage