Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls

Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular irregularities. Although these diseases are rare, patients with attacks often do present to the emergency department (ED) where consideration of porphyria is generally not included in the differential.

Here, we examine a case of a 16-year-old male who presented to our ED for evaluation of recurring abdominal pain and auditory hallucinations in which porphyria was considered by the emergency physician.

Not considering acute porphyria in patients with recurring neurovisceral symptoms in the ED can lead to missed opportunities for diagnosing such pathologies.