High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria
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Previous studies have indicated a high risk of hepatocellular carcinoma in acute hepatic porphyrias. In this retrospective study we present the incidence of primary liver cancer and clinical characteristics in a cohort of 179 acute porphyria patients above the age of 50 years.
Twenty-three cases with primary liver cancer were found either by a surveillance program or due to clinical suspicion. Standardized rate ratio was used to estimate the relative risk of primary liver cancer after indirect standardization. Survival data were calculated using the Kaplan-Meier method.
The mean age at diagnosis was 69 years. Hepatocellular carcinoma was found in 19 patients while four patients had cholangiocarcinoma or a combination of the two. Four patients had underlying cirrhosis. Mean tumour size was 4.3 cm in the surveillance group and 10.3 cm in the non-surveillance group (p = 0.01). The overall relative risk of primary liver cancer was 86 above the age of 50: 150 for women and 37 for men. Mean survival time was 5.7 years.
Acute hepatic porphyria carries a high risk of primary liver cancer above the age of 50 which warrants ultrasound surveillance. Sex distribution and frequency of cirrhosis differs from more common aetiologies of primary liver cancer.
- Anderson KE, Sassa S, Bishop DF, Desnick RJ (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. The metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds) McGraw-Hill, New York 2: 2991–3062Google Scholar
- Onuki J, Teixeira PC, Medeiros MH et al (2002) Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria? Cell Mol Biol (Noisy-le-grand) 48(1):17–26Google Scholar
- Wiman Å (2003) Genetic Characterization of Swedish Families with Hereditary Coproporphyria, Variegate Porphyria, and Erythropoietic Protoporphyria. Dep Med Lab Sci and Tech, Div Clin Chem, Karolinska Institutet, Huddinge Univ Hospital. Stockholm, Karolinska InstitutetGoogle Scholar