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American Journal of Medical Case Reports. 2015, 3(5), 141-143
DOI: 10.12691/AJMCR-3-5-6
Case 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
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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

Abstract

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.

Keywords

acute intermittent porphyria, porphobilinogen deaminase, hepatocellular carcinoma

Copyright

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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