An easily overlooked disease in the early stages: acute intermittent porphyria
This case unveils that AIP is a disease that can be easily overlooked in its early stages. When a patient presents with central, peripheral, or autonomic nervous system symptoms and common causes are ruled out, AIP should be considered as a potential diagnosis. Additionally, unexplained symptoms such as abdominal pain, changes in urine color, hyponatremia should also raise suspicion. Timely screening through biochemical testing, including measurement of ALA, PBG and porphyrins in a random urine sample, is recommended. Timely administration of intravenous hemin and avoidance of precipitating factors can lead to a better prognosis.
Authors
- J Chen (ORCID: https://orcid.org/0009-0005-4771-737X)
- Jinzhou Feng (ORCID: https://orcid.org/0000-0003-4987-6313)
- Xinyue Qin (ORCID: https://orcid.org/0000-0002-5792-2319)
- Gang Yu (ORCID: https://orcid.org/0000-0003-0221-0514)
- Peng Zheng (ORCID: https://orcid.org/0000-0002-9864-6832)
- Jing Wang (ORCID: https://orcid.org/0009-0008-7175-9870)
- Ke Xu (ORCID: https://orcid.org/0000-0002-7689-750X)
- Zhizhong Li (ORCID: https://orcid.org/0000-0002-9571-9311)
- Jing Luo (ORCID: https://orcid.org/0000-0002-9778-1012)
Institutions
- The Affiliated Yongchuan Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- BMC Neurology
- Published
- 2025-02-13
- DOI
- https://doi.org/10.1186/s12883-025-04064-0
- Citations
- 2
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61