AI Article Synopsis
- Acute intermittent porphyria (AIP) disrupts heme synthesis, resulting in harmful buildup of precursors and causing various debilitating symptoms.
- A rare case is discussed where AIP was misidentified as ascending polyneuropathy, highlighting the challenges in diagnosis.
- The condition was ultimately diagnosed and successfully treated with an extended course of hemin after overcoming initial testing hurdles.
Article Abstract
Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270598 | PMC |
| http://dx.doi.org/10.14309/crj.0000000000000827 | DOI Listing |
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