Objectives: To study whether primary liver cancer (PLC) could be associated with acute intermittent porphyria (AIP) carriership and whether the activity of erythrocyte porphobilinogen deaminase (PBGD) could be used as a tumour marker for PLC.
Design: Prospective study.
Setting: Medical and surgical wards in two general hospitals in Göteborg, Sweden.
Subjects: All patients with a strong suspicion of PLC (n = 109) who came to the authors' attention.
Main outcome measures: Measurement of PBGD activity in erythrocytes. Comparison of the PBGD activity in groups with various final diagnoses-hepatocellular carcinoma (n = 58), cholangiocellular carcinoma (n = 2), malignancy other than PLC (n = 18), benign liver disorders (n = 11)--and according to presence of cirrhosis.
Results: None of the patients had a clinical or family history of AIP. Four cases with low PBGD activity, suggesting AIP gene carriership, were found, which is more than expected. However, the cases were evenly distributed amongst the groups. The mean activity of PBGD was higher in cirrhotic patients, irrespective of the presence of PLC, than in others.
Conclusions: (i) Acute intermittent porphyria gene carriership might be associated with an increased risk not only for PLC but also for secondary malignancies and benign tumours in the liver. (ii) High activity of PBGD is not unusual in liver cirrhosis and the reason for this needs to be elucidated, but it seems to be of no clinical value as a tumour marker for PLC.