American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
Open Access
Journal Browser
American Journal of Medical Case Reports. 2015, 3(5), 141-143
DOI: 10.12691/ajmcr-3-5-6
Open AccessCase Report

Hepatocellular Carcinoma in Acute Intermittent Porphyria: Incidental or Expected?

Mary Mathews1, , Lauren Paish2, Abhishek Kumar3, Nazia Khan1 and Michael Maroules3

1Department of Internal Medicine, St. Joseph’s Regional Medical Center, New York Medical College

2Medical Student, New York Medical College

3Division of Hematology Oncology, Department of Internal Medicine, St. Joseph’s Regional Medical Center

Pub. Date: April 23, 2015

Cite this paper:
Mary Mathews, Lauren Paish, Abhishek Kumar, Nazia Khan and Michael Maroules. Hepatocellular Carcinoma in Acute Intermittent Porphyria: Incidental or Expected?. American Journal of Medical Case Reports. 2015; 3(5):141-143. doi: 10.12691/ajmcr-3-5-6


Acute intermittent porphyria (AIP) is a rare genetic disorder involving an insufficiency of the enzyme porphobilinogen deaminase of the heme biosynthesis pathway. Clinically, this manifests as acute attacks of abdominal pain and neuropsychiatric dysfunction, at times these attacks can be life threatening. Despite an autosomal dominant pattern of inheritance, only a minority develop acute attacks due to poor penetrance, thus representing the manifest and latent type of AIP. A unique association between AIP and Hepatocellular carcinoma (HCC) has been reported by some studies recommended screening recommendations for AIP gene carriers over the age of 50. We report a case of 55 year old Slovakian female with a past medical history of acute intermittent porphyria. She presented to the emergency room complaining of persistent, sharp, right upper quadrant pain with intractable nausea and vomiting. A diagnosis of acute episode of AIP was made, along with incidental finding of hepatocellular carcinoma.

acute intermittent porphyria porphobilinogen deaminase hepatocellular carcinoma

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit


[1]  Kauppinen, R., & Mustajoki, P. (1988). Acute hepatic porphyria and hepatocellular carcinoma. British journal of cancer, 57(1), 117.
[2]  Linet, M. S., Gridley, G., Nyrén, O., Mellemkjaer, L., Olsen, J. H., Keehn, S., ... & Fraumeni, J. F. (1999). Primary liver cancer, other malignancies, and mortality risks following porphyria: a cohort study in Denmark and Sweden.American journal of epidemiology, 149(11), 1010-1015.
[3]  Stewart, M. F. (2012). Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. Journal of clinical pathology, 65(11), 976-980.
[4]  Elder, G., Harper, P., Badminton, M., Sandberg, S., & Deybach, J. C. (2013). The incidence of inherited porphyrias in Europe. Journal of inherited metabolic disease, 36(5), 849-857.
[5]  Lithner, F., & Wetterberg, L. (1984). Hepatocellular carcinoma in patients with acute intermittent porphyria. Acta Medica Scandinavica, 215(3), 271-274.
[6]  Andersson, C., Bjersing, L., & Lithner, F. (1996). The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria. Journal of internal medicine, 240(4), 195-201.
[7]  Innala, E., & Andersson, C. (2011). Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15‐year follow‐up in northern Sweden. Journal of internal medicine, 269(5), 538-545.
[8]  Andant, C., Puy, H., Faivre, J., & Deybach, J. C. (1998). Acute hepatic porphyrias and primary liver cancer. New England Journal of Medicine, 338(25), 1853-1854.
[9]  Rogler, C. E., Sherman, M., Su, C. Y., Shafritz, D. A., Summers, J., Shows, T. B., ... & Kew, M. (1985). Deletion in chromosome 11p associated with a hepatitis B integration site in hepatocellular carcinoma. Science, 230(4723), 319-322.
[10]  Bengtsson, N. O., & Hardell, L. (1986). Porphyrias, porphyrins and hepatocellular cancer. British journal of cancer, 54(1), 115.
[11]  Jeans, J. B., Savik, K., Gross, C. R., Weimer, M. K., Bossenmaier, I. C., Pierach, C. A., & Bloomer, J. R. (1996). Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series.American journal of medical genetics, 65(4), 269-273.
[12]  Russell, A. and Batalova,J. (2012).European Immigrants in the United States. Retrieved from http://
[13]  Altekruse, S. F., McGlynn, K. A., & Reichman, M. E. (2009). Hepatocellular carcinoma incidence, mortality, and survival trends in the United States from 1975 to 2005. Journal of Clinical Oncology, 27(9), 1485-1491.