Table 1

Summary of studies reporting risk of HCC in acute porphyria

ReferenceStudy typePopulationSubjectsHCC cases
Lithner and Wetterberg3 RetrospectiveSweden11475 had cirrhosis
Hardell et al 4 Case-controlSweden83 men with HCC3303/83 men with HCC had a previous diagnosis of AIP vs no control
Bengtsson and Hardell13 RetrospectiveSweden2 families (15 AIP subjects)532
Kauppinen and Mustajoki5 Retrospective cohortFinland245 patients (184 AIP; 61 VP); 163 living; 82 deceased7526 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 cohortFinland268 patients in disease register: 206 in follow-up group8627AIP, 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 studySweden33 AIP subjects in 2122 deceased subjects936Among 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
Sweden22 patients with AIP and HCC17710Morphological and genetic data available for 17/22 subjects (3 latent, 14 overt AIP)
Jeans et al 10 Retrospective cohort study (50 years cumulative mortality)USA168 AIP patients00050 deceased; no HCC cases;
no data on 32 (19%)
Linet et al 8 Prospective cohort: Sweden 1965–1983; Denmark 1977–1989Sweden (n=231)
Denmark (n=65)
296 AIP patients5NSNSAll HCC cases Swedish; SIR 70.4 (95% CI 22.7 to 164.3)
Andant et al 11 Prospective cohort 1989–1996France650 patients (430 AIP; 136 VP; 84 HCP);7435 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 1993–2007Switzerland205 AIP; 37 VP; 4 HCP4042 AIP, 2 VP. SIR not calculated
Innala and Andersson9 Prospective cohort 1994–2009Northern Sweden180 AIP gene carriers age >55 years221210SIR 64 (95% CI 40 to 97)
  • AIP, acute intermittent porphyria; HCC, hepatocellular cancer; HCP, hereditary coproporphyria; SIR, standardised incidence ratio; VP, variegate porphyria.