Summary of studies reporting risk of HCC in acute porphyria
| Reference | Study type | Population | Subjects | HCC cases | |||
|---|---|---|---|---|---|---|---|
| Total | Men | Women | Comments | ||||
| Lithner and Wetterberg3 | Retrospective | Sweden | 11 | 4 | 7 | 5 had cirrhosis | |
| Hardell et al 4 | Case-control | Sweden | 83 men with HCC | 3 | 3 | 0 | 3/83 men with HCC had a previous diagnosis of AIP vs no control |
| Bengtsson and Hardell13 | Retrospective | Sweden | 2 families (15 AIP subjects) | 5 | 3 | 2 | |
| Kauppinen and Mustajoki5 | Retrospective cohort | Finland | 245 patients (184 AIP; 61 VP); 163 living; 82 deceased | 7 | 5 | 2 | 6 AIP, 1 VP, all deceased. No data on 39/163 (24%) of living subjects, 61-fold increased risk (compared to general population) |
| Kauppinen and Mustajoki6 | Retrospective cohort | Finland | 268 patients in disease register: 206 in follow-up group | 8 | 6 | 2 | 7AIP, 1 VP, all deceased (includes same cases as reference5). No data on 62 (23%) of follow-up group |
| Andersson et al 7 | Retrospective population-based mortality study | Sweden | 33 AIP subjects in 2122 deceased subjects | 9 | 3 | 6 | Among 9 HCC cases, 2 had cirrhosis, 3 ‘pre-cirrhosis’, 3 not possible to assess. 27% risk of HCC in AIP vs 0.2% in general population |
| Bjersing et al 17 | Retrospective case series | Sweden | 22 patients with AIP and HCC | 17 | 7 | 10 | Morphological and genetic data available for 17/22 subjects (3 latent, 14 overt AIP) |
| Jeans et al 10 | Retrospective cohort study (50 years cumulative mortality) | USA | 168 AIP patients | 0 | 0 | 0 | 50 deceased; no HCC cases; no data on 32 (19%) |
| Linet et al 8 | Prospective cohort: Sweden 1965–1983; Denmark 1977–1989 | Sweden (n=231) Denmark (n=65) | 296 AIP patients | 5 | NS | NS | All HCC cases Swedish; SIR 70.4 (95% CI 22.7 to 164.3) |
| Andant et al 11 | Prospective cohort 1989–1996 | France | 650 patients (430 AIP; 136 VP; 84 HCP); | 7 | 4 | 3 | 5 AIP, 1VP, 1 HCP. Overall SIR 36 (95% CI 14 to 74), 26 (95% CI 8 to 59) after excluding 2 AIP patients with cirrhosis and viral hepatitis (no data on 71 (11%)) |
| Schneider Yin et al 12 | Retrospective cohort 1993–2007 | Switzerland | 205 AIP; 37 VP; 4 HCP | 4 | 0 | 4 | 2 AIP, 2 VP. SIR not calculated |
| Innala and Andersson9 | Prospective cohort 1994–2009 | Northern Sweden | 180 AIP gene carriers age >55 years | 22 | 12 | 10 | SIR 64 (95% CI 40 to 97) |
AIP, acute intermittent porphyria; HCC, hepatocellular cancer; HCP, hereditary coproporphyria; SIR, standardised incidence ratio; VP, variegate porphyria.