A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria—a case report

TL;DR

A type 2 diabetes patient with persistent abdominal pain was found to have variegate porphyria, a rare metabolic disorder, after a detailed diagnostic process.

Contribution

This case report highlights the atypical presentation of variegate porphyria in a diabetic patient and emphasizes the importance of considering it in similar clinical scenarios.

Findings

A 71-year-old female with type 2 diabetes was diagnosed with variegate porphyria via genetic testing after presenting with chronic abdominal pain.

The patient's symptoms were managed successfully with intravenous glucose and adjusted glycemic targets.

The case demonstrates that variegate porphyria can present without skin lesions and may mimic other conditions.

Abstract

Variegate porphyria (VP) is a rare metabolic disorder. Its diagnosis is challenging when cutaneous features are absent and symptoms overlap with common conditions like diabetic neuropathy.

We report a 71-year-old female with a 30-year history of type 2 diabetes and a 3-year history of mild chronic abdominal pain and psychiatric symptoms. Extensive workup for common abdominal pathologies was negative. A positive urine sun exposure test prompted genetic analysis, which identified a heterozygous pathogenic variant in the PPOX gene (c.567A>C, p.Gln189His), confirming VP. Her mild acute attack was managed successfully with intravenous glucose and safe psychotropic agents, alongside adjusted glycemic targets to prevent catabolism.

This case underscores that VP can present atypically without skin lesions. It highlights the importance of considering VP in diabetic patients with unexplained neurovisceral symptoms and demonstrates that mild attacks can be managed with tailored supportive care.

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