Table 1.
Characteristics of CV-ASMD patients (ASM: acid sphingomyelinase).
| Data Available, n |
||
|---|---|---|
| Total, n | 31 | |
| Males, n | 19 | |
| Females, n | 12 | |
| Peripheral leucocyte ASM activity (Median, IQ) | 0.36 nmol/h/mg protein (IQ: 0.21–0.55) | 24 |
| Age at diagnosis (Median, IQ) | 8.1 y. (1.8–42.3) | 31 |
| Age at last follow-up (Median, IQ) | 48.7 y. (30.3–55.1) | 31 |
| Body mass index (Median, IQ) | 24.2 kg/m2 (21.5–27.6) | 31 |
| Consanguinity | 51.6% | 31 |
| Adrenal gland abnormality | 72.2% | 18 |
| Spleen size (Median, IQ) | 18 cm (17–22) | 23 |
| DLCO (Median, IQ) | 51.5% (IQ: 42–69) | 24 |
| Haemoglobin (Median, IQ) | 14.3 g/dL (13.7–14.9) | 26 |
| Platelets (Median, IQ) | 130 g/L (98–140) | 31 |
| HDL cholesterol (Median, IQ) | 0.25 g/L (0.18–0.30) | 21 |
| Tobacco exposure | 53.6% | 28 |
| Alcohol exposure | 42.3% | 26 |
| Cancer | 5 | 31 |
| Death | 3 | 31 |
CV-ASMD: chronic visceral ASMD; DLCO: carbon monoxide diffusing capacity of the lung; IQ: interquartile range; HDL: high-density lipoprotein.