Table 4 |.
Orthotopic liver transplantation: outcomes in suspected and proven POLG-related disease
| Report | Number of recipients | Diagnosis | Age at transplantation | Outcome |
|---|---|---|---|---|
| Bicknese et al. (1992)169 | 1 | VPA-ALF (AHS) | 3 years 9 months | Died from relentlessly progressive neurological deterioration 3 months post-transplant |
| Bell et al. (1992)127 | 1 | VPA-ALF | 23 years | Long-term survival reported |
| Thomson et al. (2000)129 | 5 | VPA-ALF (AHS) | 15 months, 3 years 6 months, 3 years 8 months, 3 years 11 months and 6 years 6 months | All died of progressive neurological disease within 1 year of transplantation (1–11 months) |
| Delarue et al. (2000)170 | 1 | VPA-ALF (AHS) | 3 years | Seizures recurred immediately after transplantation and patient died from neurological progression 4.5 months post-transplant |
| Kayihan et al. (2000)171 | 1 | VPA-ALF (AHS) | 12 years | Rapid neurological deterioration (severe ataxia, tremor and generalized epilepsy) 6 weeks after transplantation; died 6 months post-transplant |
| Tzoulis et al. (2006)65 | 2 | POLG-related disease | 20 and 28 years | One died immediately after transplantation; second alive 5 years post-transplant |
| Wolf et al. (2009)28 | 1 | POLG-related disease (AHS) | 6 years 9 months | Progressive neurological deterioration leading to death 10 months post-transplant |
| Wong et al. (2008)25 | 1 | POLG-related disease | 19 years | Alive 9 years post-transplant |
| Saneto et al. (2010)121 | 1 | POLG-related disease | 21 years | Died 2 days post-transplant |
| Mindikoglu et al. (2011)131 | 17 | VPA-ALF | 1–16 years (15 cases <8 years) | 14 died within 1 year of transplantation (median survival for whole group: 2.8 months post-transplant); no long-term survivors |
| Hynynen et al. (2014)128 | 4 | POLG-related disease | 20,21,14 and 36 years | All had only occasional seizures post-transplant; three long-term survivors (4, 4 and 19 years); fourth patient (aged 36 years at transplantation) died suddenly 2 years post-transplant |
| Parikh et al. (2016)172 | 6 | POLG-related disease | Not specified | Direct worsening of mitochondrial disease symptoms post-transplant in three patients, with two dying shortly after transplantation; two patients with POLG-related AHS had no complications or symptom progression (ages not given) |
AHS, Alpers–Huttenlocher syndrome (clinical and/or neuropathological diagnosis); VPA-ALF valproic acid-associated acute liver failure.