Table 1.
Demographic, anthropometric, clinical, and histological features, as evaluated at diagnosis, of 174 Italian patients with homozygous for the C282Y HFE mutation of hereditary hemochromatosis subdivided according to the PNPLA3 I148M genotype
| All patients |
PNPLA3 I148M genotype |
Pvalue | |||
| I/I | I/M | M/M | |||
| n (%) | 174 | 82 (47) | 70 (40) | 22 (13) | |
| Age (yr) | 47 ± 13 | 46 ± 13 | 47 ± 14 | 50 ± 11 | 0.22 |
| Gender F (%) | 49 (28) | 24 (30) | 19 (27) | 6 (27) | 0.79 |
| DAI (g) | 10 (0-20) | 10 (0-20) | 5 (0-20) | 10 (0-20) | 0.98 |
| BMI (kg/m2) | 24 ± 3 | 24 ± 3 | 24 ± 3 | 25 ± 2 | 0.11 |
| Diabetes (%) | 16 (9) | 7 (9) | 6 (9) | 3 (14) | 0.57 |
| Total cholesterol (mg/dL) | 191 ± 44 | 197 ± 37 | 186 ± 50 | 182 ± 44 | 0.25 |
| HDL cholesterol (mg/dL) | 53 ± 16 | 53 ± 14 | 53 ± 17 | 57 ± 15 | 0.47 |
| Triglycerides (mg/dL) | 120 ± 66 | 123 ± 64 | 122 ± 74 | 99 ± 35 | 0.30 |
| TS % | 80 ± 16 | 80 ± 16 | 79 ± 15 | 81 ± 23 | 0.94 |
| Ferritin | 1000 | 1018 | 947 | 1053 | 0.36 |
| (ng/mL) | (509-1800) | (490-1813) | (516-1732) | (504-2101) | |
| AST (IU/mL) | 34 ± 21 | 31 ± 16 | 35 ± 24 | 44 ± 29 | 0.019 |
| ALT (IU/mL) | 46 ± 32 | 41 ± 26 | 47 ± 34 | 55 ± 45 | 0.06 |
| GGT (IU/mL) | 24 (16-37) | 24 (17-37) | 24 (15-38) | 23 (14-30) | 0.95 |
| Steatosis1 (%) | 55 (48) | 18 (31) | 29 (58) | 8 (53) | 0.014 |
| Advanced fibrosis % | 18 (10) | 9 (11) | 7 (10) | 2 (9) | 0.95 |
| (Ishak 4) % | |||||
| Cirrhosis | 32 (18) | 13 (16) | 14 (20) | 5 (23) | 0.39 |
| (Ishak 5-6) % | |||||
1
Available in 123 patients. I: Ileucine; M: Methionine; n: Number; F: Female; DAI: Daily alcohol intake; BMI: Body mass index; HDL: High density lipoprotein cholesterol; TS: Transferrin saturation; AST: Aspartate aminotransferase; ALT: Alanine aminotransaminase; GGT: γ-glutamyl transferase.