Work

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

Year: 2025

Type: article

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.

Source: Iranian journal of pathology

DOI: 10.30699/ijp.2025.2066613.3491

Authors: Ying Yu, Lixia Yu, Minghui Li, Mengjie Ma, Yuwen Zhu, Jiacong Shen

Institutions: Zhejiang Chinese Medical University, Shaoxing People's Hospital

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $182