M. Holmgren and C. Andersson
Department of Family Medicine, University Hospital, Umeå, Sweden
Objective. Evaluate the benefit from the screening of hepatocellular carcinoma (HCC) in gene carriers of acute intermittent porphyria (AIP) - a high-risk group for developing HCC – as early diagnosis and resection of small HCC may be curative.
Design. A prospective study in northern Sweden 1994 – 2004.
Methods. AIP gene carriers aged > 55 yrs were invited at intervals of 1-2 yrs for examination of the liver (comuterized tomography, ultrasonography or magnetic resonance imaging, and relevant blood laboratory tests). All 15 AIP patients with HCC during the study period, verified by Cancer Registry in Sweden, were studied in detail.
Results. On average 64 AIP gene carriers (78%) regularily participated in the screening, sex was irrelevant. 63% of the women and 50% of the men had manifest AIP. 12 (80%) of the 15 patients (m:w 9:6) with HCC had manifest AIP. The PAD revealed cirrhosis in 3 cases. In 10 cases the tumors were well-differentiated. Aminotransferases or alphafetoprotein was of no diagnostic use in the screening. Hepatitis B or C was not found. The levels of U-ALA or U-PBG were increased in all but one case. Eight cases of HCC were diagnosed by screening; 2 patients at first screening and 6 patients at repeated screening. Seven cases of HCC detected due to symptoms had not been screened. The 6 patients detected after repeated screening (A) were compared with the group of 9 patients comprising HCC patients not screened and those detected at first screening (B). The mean age at HCC diagnosis was the same in both groups, 67 yrs (54 – 80 yrs). Surgery (liver resection) was an option in 5 of 6 in group A and in 3 of the 9 patients in group B. In total 11 patients with HCC died during study period. Great variations in survival time were registered, 2 – 179 months. A two-year survival was more common in group A (repeated screening) compared with group B (p= 0.04).
Conclusions. Screening for HCC in AIP gene carriers for early diagnosis, combined with surgical options, can improve the prognosis of this condition. Annual screening with ultrasonography or computorized tomography is recommended from the age of 50 yrs.