SHM Converge Scientific Abstract ePoster Gallery-The Masks of Acute Intermittent Porphyria

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This case highlights how acute intermittent porphyria (AIP) can be missed when a patient already has another plausible explanation for abdominal pain. AIP is an autosomal dominant disorder caused by deficiency of porphobilinogen deaminase, leading to buildup of toxic heme precursors. Its symptoms are often vague and can include severe abdominal pain, tachycardia, hypertension, and hyponatremia, making diagnosis difficult.<br /><br />The patient was a 22-year-old woman with stage IV endometriosis who presented with a week of diffuse abdominal pain, poor appetite, and pink-red urine. She had previously been admitted with similar symptoms and diagnosed with an endometriosis flare, which likely contributed to anchoring bias. On this admission, she was tachycardic, mildly hypotensive, and had marked hyponatremia. Imaging again confirmed extensive endometriosis, so she was initially treated as having another flare. However, her pain was unusually severe and refractory to opioids, requiring lidocaine and ketamine infusions. Additional findings, including hematuria, elevated urinary porphobilinogen, and reduced erythrocyte PBG-D activity, confirmed AIP. She improved rapidly after treatment with intravenous hemin.<br /><br />The report emphasizes that abdominal pain associated with hormonal changes may be due to endometriosis, AIP, or both. In patients whose pain is unusually severe or does not respond to standard therapy, clinicians should consider concurrent pathology. Early recognition of AIP is important because avoidance of triggers and prompt hemin therapy can significantly improve acute attacks and reduce complications.

Asset Subtitle

Benjamin Henson

Meta Tag

Author List Ajin John, Alexander Mink, Benjamin Henson

Category Clinical Vignettes

Concept Acute Intermittent Porphyria

Concept Porphobilinogen Deaminase

Concept Porphobilinogen

Concept Heme Precursor Accumulation

Concept Abdominal Pain

Distinguished Non-Finalist

Presenter Organization Virginia Commonwealth University School of Medicine

Presenting Author Benjamin Henson

Track Adult

Keywords

acute intermittent porphyria

AIP

endometriosis

abdominal pain

hyponatremia

porphobilinogen

heme precursors

hemin therapy

anchoring bias

porphobilinogen deaminase

Acute Intermittent Porphyria

Porphobilinogen Deaminase

Porphobilinogen

Heme Precursor Accumulation

Abdominal Pain