High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.

Carcinoma, Hepatocellular/*etiology ; Liver Neoplasms/*etiology ; Porphobilinogen Synthase/*deficiency ; Porphyrias, Hepatic/*complications; Aged ; Aged, 80 and over ; Carcinoma, Hepatocellular/epidemiology ; Cohort Studies ; Disease Susceptibility ; Female ; Humans ; Liver Neoplasms/epidemiology ; Male ; Middle Aged ; Porphyrias, Hepatic/epidemiology ; Risk Factors ; Survival Analysis ; Sweden/epidemiology

Background/aims: 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.
Methods: 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.
Results: 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.
Conclusion: 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.

Br J Cancer. 1986 Jul;54(1):115-7. (PMID: 3015181)
Acta Med Scand. 1984;215(3):271-4. (PMID: 6328897)
Eur J Clin Chem Clin Biochem. 1995 Apr;33(4):179-94. (PMID: 7626691)
Lakartidningen. 1973 Nov 21;70(47):4265-6. (PMID: 4362898)
HPB (Oxford). 2005;7(1):5-15. (PMID: 18333156)
Clin Genet. 2002 Oct;62(4):288-97. (PMID: 12372055)
Gastroenterology. 1983 Nov;85(5):1131-7. (PMID: 6618105)
Clin Chem. 2002 Nov;48(11):1891-900. (PMID: 12406973)
Curr Treat Options Gastroenterol. 2007 Dec;10(6):444-55. (PMID: 18221605)
Physiol Res. 2006;55 Suppl 2:S109-18. (PMID: 17298215)
Liver Transpl. 2007 Sep;13(9):1219-27. (PMID: 17763398)
Lancet. 2004 Feb 28;363(9410):705-6. (PMID: 15001330)
Br J Cancer. 1988 Jan;57(1):117-20. (PMID: 2831925)
Br J Cancer. 1984 Sep;50(3):389-97. (PMID: 6087869)
Gastroenterology. 2004 Nov;127(5 Suppl 1):S5-S16. (PMID: 15508102)
Transpl Int. 2010 Jun;23(6):e18-21. (PMID: 20028496)
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):17-26. (PMID: 11930945)
J Photochem Photobiol B. 1993 Sep;20(1):5-22. (PMID: 8229469)
J Intern Med. 1996 Oct;240(4):195-201. (PMID: 8918510)
Medicine (Baltimore). 1992 Jan;71(1):1-13. (PMID: 1549056)
Liver Transpl. 2004 Jul;10(7):935-8. (PMID: 15237381)
Cancer Epidemiol Biomarkers Prev. 1996 May;5(5):393-7. (PMID: 9162306)
J Hepatol. 2000 Jun;32(6):933-9. (PMID: 10898313)
Acta Derm Venereol. 2010 Sep;90(5):512-5. (PMID: 20814629)
Hepatology. 2005 Nov;42(5):1208-36. (PMID: 16250051)
J Intern Med. 2011 May;269(5):521-4. (PMID: 21323767)
J Intern Med. 2011 May;269(5):538-45. (PMID: 21198994)

EC 4.2.1.24 (Porphobilinogen Synthase)

Porphyria, Acute Hepatic

Date Created: 20130125 Date Completed: 20140715 Latest Revision: 20211021

20240829

10.1007/s10545-012-9576-9

23344888