Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden

J Intern Med. 2011 May;269(5):538-45. doi: 10.1111/j.1365-2796.2010.02335.x. Epub 2010 Dec 28.

Abstract

Objectives: To evaluate the benefit of screening for hepatocellular carcinoma (HCC) in gene carriers of acute intermittent porphyria (AIP) and estimate the annual incidence of HCC in this group.

Subjects: All AIP gene carriers aged ≥55 years from the northernmost county in Sweden, Norrbotten, were invited for screening in this prospective study every 1-1.5 years during the period 1994-2009. We registered all HCC cases amongst AIP gene carriers in the northern region of Sweden (four counties). We compared gene carriers with repeated screening intervals of <2 years (Group A) with controls (Group B; i.e. gene carriers who had never been screened, those screened for the first time or screened at intervals of >2 years, or dropouts). The screening included radiological examination of the liver and relevant laboratory tests.

Results: A total of 62 AIP subjects participated in the study, comprising 33% of the total AIP population aged >55 years in the northern region of Sweden. HCC was diagnosed in 22 AIP subjects (12 men and 10 women), mean age 69 (59-82) years. Amongst these subjects, 73% had experienced prior AIP attacks. The incidence rate ratio for HCC was 64 (52 in men and 93 in women). There were no cases of hepatitis B/C or alcohol abuse. Liver cirrhosis was rare. Liver resection could be performed in most subjects in Group A. Fourteen patients died of HCC, one in Group A and 13 in Group B. Compared with those who were not screened regularly, screening was associated with improved 3-year and 5-year survival (P = 0.005 and 0.038).

Conclusions: Screening for HCC in carriers of AIP enables early diagnosis and a choice of potentially curative treatments with improved prognosis. We recommend annual screening using liver imaging for AIP gene carriers >50 years of age.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Carcinoma, Hepatocellular / diagnosis*
  • Female
  • Follow-Up Studies
  • Heterozygote
  • Humans
  • Hydroxymethylbilane Synthase / genetics
  • Liver Neoplasms / diagnosis*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Porphyria, Acute Intermittent / genetics*
  • Prospective Studies
  • Risk Factors
  • Sex Factors
  • Surveys and Questionnaires
  • Sweden / epidemiology
  • Tomography, X-Ray Computed

Substances

  • Hydroxymethylbilane Synthase