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

TL;DR

A 74-year-old man with persistent abdominal pain was diagnosed with hepatic porphyria, highlighting the importance of early detection and genetic testing for proper management.

Contribution

This case report emphasizes the diagnostic challenges and clinical features of hepatic porphyria in an elderly patient.

Findings

The patient had a pathogenic FECH gene mutation confirming hepatic porphyria.

Symptoms included abdominal pain, distension, and cutaneous lesions.

Early diagnosis and genetic testing are crucial for effective management.

Abstract

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.

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.

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.

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