CASE REPORT article
Front. Endocrinol.
Sec. Clinical Diabetes
This article is part of the Research TopicCommunity Series in: Clinical and Genetic Determinants of Diabetes and Complications - Volume IIView all 3 articles
A Type 2 Diabetes Patient with Three Years of Persistent Abdominal Pain: The Culprit Was Variegate Porphyria—A Case Report
Provisionally accepted
- Quzhou KeCheng People’s Hospital, Quzhou, China
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Introduction: 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. Case Presentation: 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. Conclusion: 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.
Keywords: case report, Diabetic neuropathy, Neurovisceral symptoms, PPOX gene, Variegate porphyria
Received: 29 Dec 2025; Accepted: 10 Feb 2026.
Copyright: © 2026 Yan, Xu, Huang, Chen, Ye, Huang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: ChenChen Wang
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