Iranian Journal of Pathology

Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review

Document Type : Case Reports

Authors

Ying Yu 1
Lixia Yu 1
Minghui Li 2
Mengjie Ma 2
Yuwen Zhu 2
Jiacong Shen 2

1 Shaoxing Joint Training Base Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China

2 Department of Infectious Disease, Shaoxing People’s Hospital, 568 Zhongxing Road, Shaoxing 312000, China

https://doi.org/10.30699/ijp.2025.2066613.3491
Abstract
Background & Objective: Hepatic porphyria is an autosomal dominant disorder characterized by a deficiency in enzymes involved in hepatic porphyrin metabolism. Disruptions in this metabolic pathway can be precipitated by various factors, including physical exertion, psychological stress, fasting, infections, and drug withdrawal. Clinically, the condition manifests as episodic lower abdominal colic and a range of neuropsychiatric symptoms.
Case Presentation: A 74-year-old male farmer presented with a four-month history of intermittent abdominal pain, abdominal distension, generalized weakness, and anorexia. The diagnosis of hepatic porphyria was established through a combination of imaging studies, laboratory investigations, liver biopsy, and genetic testing, which revealed a pathogenic c.587G>T (p.C196F) mutation in the FECH gene. The patient exhibited mild cutaneous lesions along with significant abdominal pain, abdominal distension, accompanied by constipation, nausea, and vomiting.
Conclusion: This case highlights the diagnostic challenges and poor prognosis of hepatic porphyria when specific therapies are unavailable. Early recognition and genetic confirmation are vital for guiding management, and clinicians should suspect porphyria in patients with unexplained abdominal pain and liver dysfunction.

Keywords

Hepatic porphyria
Abdominal pain
Genetic testing
Liver biopsy
Case report

Subjects

Copyright © 2026. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The license also allows users to adapt, remix, transform, and build upon the material for any purpose, including commercial use.

1.        Solinas S. Defects in gene involved in heme biosynthesis: first molecular step for the development of potential salivary biomarkers correlated with porphyria. 2021.
2.        Ramanujam VS, Moghe A, Huda R, Turner SB, Anderson KE. Porphyria Diagnostics Part 2: Essential Biochemical Testing for Diagnosis of the Porphyrias. Curr Protoc. 2025;5(2):e70092.             [DOI:10.1002/cpz1.70092] [PMID]
3.        Buzzetti E, Ventura P, Corradini E. Iron in Porphyrias: Friend or Foe? Diagnostics (Basel). 2022;12(2):272. [DOI:10.3390/diagnostics12020272] [PMID] [PMCID]
4.        Duarte TL, Viveiros N, Godinho C, Duarte D. Heme (dys)homeostasis and liver disease. Front Physiol. 2024;15:1436897. [DOI:10.3389/fphys.2024.1436897] [PMID] [PMCID]
5.        Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A. Acute porphyrias-A neurological perspective. Brain and Behavior. 2021;11(11):e2389. [DOI:10.1002/brb3.2389] [PMID] [PMCID]
6.        Granata F, Nicolli A, Colaiocco A, Di Pierro E, Graziadei G. Psychological aspect and quality of life in porphyrias: a review. Diagnostics. 2022;12(5):1193. [DOI:10.3390/diagnostics12051193] [PMID] [PMCID]
7.        Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H. Erythropoietic porphyrias: animal models and update in gene-based therapies. Curr Gene Ther. 2008;8(3):176-86.               [DOI:10.2174/156652308784746477] [PMID]
8.        Moghe A, Dickey A, Erwin A, Leaf RK, O'Brien A, Quigley JG, et al. Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples. Mol Genet Metab. 2023;140(3): 107670. [DOI:10.1016/j.ymgme.2023.107670] [PMID]
9.        Zhao C, Guan JX, Hui DY, Zhang NN, Lu LR, Tang LY, et al. Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases. Ann Diagn Pathol. 2022;56:151859.             [DOI:10.1016/j.anndiagpath.2021.151859] [PMID]
10.     Balogun O, Nejak-Bowen K, editors. The hepatic porphyrias: revealing the complexities of a rare disease. Semin Liver Dis; 2023: Thieme Medical Publishers, Inc. [DOI:10.1055/s-0043-1776760] [PMID] [PMCID]
11.     Wang B. The acute hepatic porphyrias. Translational Gastroenterology and Hepatology. 2021;6:24.         [DOI:10.21037/tgh-2020-01] [PMID] [PMCID]
12.     Camilleri M. Gastrointestinal motility disorders in neurologic disease. J Clin Invest. 2021;131(4). [DOI:10.1172/JCI143771] [PMID] [PMCID]
13.     Sweetser S. Gastrointestinal manifestations of systemic diseases. Yamada's Textbook of Gastroenterology. 2022:2231-73. [DOI:10.1002/9781119600206.ch111]
14.     Pischik E, Baumann K, Karpenko A, Kauppinen R. Pathogenesis of acute encephalopathy in acute hepatic porphyria. J Neurol. 2023;270(5):2613-30.     [DOI:10.1007/s00415-023-11586-5] [PMID] [PMCID]
15.     Santos MO, Rato ML. Neurology of the acute hepatic porphyrias. J Neurol Sci. 2021;428:117605. [DOI:10.1016/j.jns.2021.117605] [PMID]
16.     Petrides PE. Therapy follows diagnosis: old and new approaches for the treatment of acute porphyrias, what we know and what we should know. Diagnostics. 2022;12(7):1618. [DOI:10.3390/diagnostics12071618] [PMID] [PMCID]
17.     Dickey AK, Leaf RK. Givosiran: a targeted treatment for acute intermittent porphyria. Hematology Am Soc Hematol Educ Program. 2024;2024(1):426-33. [DOI:10.1182/hematology.2024000663] [PMID] [PMCID]
18.     Moghe A, McGuire BM, Levy C. Acute hepatic porphyrias-A guide for hepatologists. Hepatology. 2024:10.1097. [DOI:10.1097/HEP.0000000000000880] [PMID]
19.     Balogun O, Nejak-Bowen K, editors. Understanding hepatic porphyrias: symptoms, treatments, and unmet needs. Semin Liver Dis; 2024: Thieme Medical Publishers. [DOI:10.1055/s-0044-1787076] [PMID] [PMCID]
20.     Pischik E, Lissing M, Pallet N, Kauppinen R. Long-term complications in acute porphyria. Liver Int. 2024;44(9):2197-207. [DOI:10.1111/liv.15966] [PMID]
21.     Lei JJ, Li S, Dong BX, Yang J, Ren Y. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity. Front Genet. 2024;15:1374965. [DOI:10.3389/fgene.2024.1374965] [PMID] [PMCID]
22.     Longo M, Paolini E, Meroni M, Dongiovanni P. Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution. Biomedicines. 2022;10(3):648. [PMCID] [DOI:10.3390/biomedicines10030648] [PMID]
23.     To-Figueras J, Badenas C, Carrera C, Munoz C, Mila M, Lecha M, et al. Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation. J Inherit Metab Dis. 2006;29(4):580-5. [DOI:10.1007/s10545-006-0344-6] [PMID]
24.     Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010;95(11):E373-83.
25.     Linenberger M, Fertrin KY. Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP. Hematology 2014, the American Society of Hematology Education Program Book. 2020;2020(1):400-10. [PMID] [PMCID] [DOI:10.1182/hematology.2020000124]
26.     Thunell S. Porphyrins, porphyrin metabolism and porphyrias. I. Update. Scand J Clin Lab Invest. 2000; 60(7):509-40. [DOI:10.1080/003655100448310] [PMID]
27.     Jansen PL, Ghallab A, Vartak N, Reif R, Schaap FG, Hampe J, et al. The ascending pathophysiology of cholestatic liver disease. Hepatology. 2017;65(2):722-38. [DOI:10.1002/hep.28965] [PMID]
28.     Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015;3(1):17-26.           [DOI:10.14218/JCTH.2014.00039] [PMID] [PMCID]
29.     Eadie AL, Simpson JA, Brunt KR. Teaching an old drug new tricks: Regulatory insights for the repurposing of hemin in cardiovascular disease. Pharmacol Res Perspect. 2024;12(4):e1225. [DOI:10.1002/prp2.1225] [PMID] [PMCID]
30.     Liu H, Man K. New Insights in Mechanisms and Therapeutics for Short- and Long-Term Impacts of Hepatic Ischemia Reperfusion Injury Post Liver Transplantation. Int J Mol Sci. 2021;22(15):8210. [DOI:10.3390/ijms22158210] [PMID] [PMCID]
31.     Smijs TG, Pavel S. Titanium dioxide and zinc oxide nanoparticles in sunscreens: focus on their safety and effectiveness. Nanotechnology, science and applications. 2011:95-112.          [DOI:10.2147/NSA.S19419] [PMID] [PMCID]
32.     Minder EI, Barman-Aksoezen J, Nydegger M, Schneider-Yin X. Existing therapies and therapeutic targets for erythropoietic protoporphyria. Expert Opinion on Orphan Drugs. 2016;4(6):577-89. [DOI:10.1517/21678707.2016.1171137]
Iranian Journal of Pathology
Volume 21, Issue 1
Winter 2026
Pages 111-120

  • Receive Date 22 July 2025
  • Revise Date 21 August 2025
  • Accept Date 03 October 2025

Home

Guide for Authors

Submit Manuscript

Contact Us