Table 2.
Clinical characteristics of individuals investigated in generation IV.
| MTTP genotype p.I564T | Sex (male/female) | Liver disease diagnosis (method) | Age at testing (years) | Type 2 diabetes | BMI | Hypertension | Liver biochemistry and lipid blood analyses at diagnosis |
|---|---|---|---|---|---|---|---|
| IT | M | NASH (USS) | 32 | x | 20 | X | ALT = 53, AP = 68, Chol = 7, TG = 3.14, VitD <15, TE = 7.4 kPa, CAP = 352 |
| IT | M | FL (USS) | 37 | x | 18 | X | Normal LFTs (ALT = 14), normal lipids; HbA1c = 9.5 |
| IT | M | FL (USS) | 40 | x | 28 | X | ALT = 74, Chol = 6, TG = 2.12, TE = 3.6 kPa, CAP = 373 |
| IT | F | Healthy (USS) | 29 | x | 20 | X | Normal LFTs (ALT = 13), normal lipids; ApoB = 0.95, TE = 3.5 kPa, CAP = 122 |
| IT | M | Healthy (TE) | 32 | x | 27 | X | TG = 2.57, Chol = 3.7, ApoB = 1.04, TE = 5.3 kPa |
| IT | M | Healthy (USS) | 31 | x | 18 | X | Normal LFTs (ALT = 19), normal lipids |
| IT | F | Healthy (USS) | 37 | x | 19 | X | Normal LFTs (ALT = 10), Chol = 4.2, TG = 1.77, ApoB = 0.96, TE = 4.2 kPa, CAP = 291 |
| IT | F | Healthy (USS) | 39 | x | 21 | x | Normal LFTs (ALT = 23), normal lipids |
| IT∗ | F | Healthy (USS) | 41 | x | 20 | x | Normal LFTs (ALT = 27), Chol = 4.6, TG = 2.15, ApoB = 1.02, TE = 3.1 kPa, CAP = 231 |
| IT∗ | M | Healthy (USS) | 44 | x | <30 | x | Normal LFTs (ALT = 27), Chol = 3.5, TG = 2.4; TE = 5.5 kPa, CAP = 281 |
| IT | M | Healthy (USS) | 49 | x | <30 | x | Normal LFTs (ALT = 14), Chol = 4.88, TG = 0.98, ApoB = 1.09, TE = 5.1 kPa, CAP = 245 |
| IT | F | FL (USS) Healthy (USS) |
35 38 |
x | 21 | x | Normal LFTs (ALT = 12), Chol = 6, TG=1.5, ApoB = 1.31, TE = 4.2 kPa, CAP = 325 Recovered after 3 years: TE = 6.3 kPa, CAP = 278 |
| IT | M | FL (USS) Healthy (USS) |
38 42 |
x | 27 | x | Normal LFTs (ALT = 39), Chol = 2.9, TG = 0.98 Recovered after 4 years: TE = 5.8 kPa, CAP = 243 |
| II∗ | M | FL (USS) Healthy (USS) |
14 19 |
x | 21 | x | Normal LFTs (ALT = 15), normal lipids Recovered after 5 years: TE = 6.9 kPa, CAP = 216 |
| II∗ | F | Healthy (USS) | 17 | x | 20 | x | Normal LFTs (ALT = 15), normal lipids; TE = 6.4 kPa, CAP = 216 |
| II∗ | F | Healthy (USS) | 20 | x | <30 | x | Normal LFTs (ALT = 9), normal lipids |
ALT, alanine transaminase (U/L); AP, alkaline phosphatase (U/L); ApoB, apolipoprotein B (g/L) (research laboratory data); CAP, controlled attenuation parameter (dB/m); Chol, cholesterol (mmol/L); FL, fatty liver; HbA1c, haemoglobin A1c; LFT, liver function test; NASH, non-alcoholic steatohepatitis; TE, transient elastography; TG, triglycerides (mmol/L); USS, abdominal ultrasonographic steatosis score.
∗
Deduced from pedigree.