Table 1. Summary of demographics, clinical presentation, genotype, and liver features of patients with GIMAP5 deficiency.
Liver transaminases | Portal hypertension and hepatocellular carcinoma | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Patient | Age at presentation (yr) | Current age (yr) | Clinical presentation | Genotype, GIMAP5 | AST (U/L) | ALT (U/L) | Splenomegaly | Thrombocytopenia | Esophageal varices | Ascites | Hepatocellular carcinoma |
P1-1 | 13 | 25 | Ecchymosis | p.I47T | 65 | 53 | ✓ | ✓ | ✓ | No | No |
P1-2 | 11 | 23 | Hemoptysis | p.I47T | 86 | 70 | ✓ | ✓ | ✓ | No | No |
P2-1 | 2 | Died at 17 | Recurrent infections | n/a | 49 | 54 | ✓ | ✓ | ✓ | No | No |
P2-2 | 15 | Died at 22 | Fatigue, epistaxis | p.L223F | 85 | 247 | ✓ | ✓ | ✓ | ✓ | No |
P2-3 | 17 | 33 | Abdominal and back pain | p.L223F | n/a | n/a | ✓ | ✓ | n/a | No | No |
P2-4 | n/a | 31 | Recognized during screening of family members | p.L223F | n/a | n/a | ✓ | No | n/a | No | No |
P2-5 | 35 | Died at 44 | Fatigue | p.L223F | 40 | 37 | ✓ | ✓ | ✓ | No | ✓a |
P3-1 | 2 | 7 | Elevated transaminases and GGT, and hepatosplenomegaly | p.P109L | 113 | 76 | ✓ | ✓ | ✓ | ✓ | No |
P4-1b | 14 | 21 | Petechia | p.L204P | 40 | 20 | ✓ | ✓ | ✓ | No | No |
ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, γ-glutamyl transferase; n/a, not available.
One 2-cm hepatic lesion with arterial enhancement and portal venous washout highly suspicious for hepatocellular carcinoma.
Patient was first described in Patterson et al. (2018).