Acute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction. These events have various triggers, including fasting, dehydration, hormonal fluctuations, and certain medications, while treatment involves dextrose infusions for mild attacks and intravenous hemin for severe cases. This case highlights a 17-year-old female patient with numerous prior presentations to the healthcare system for intense bouts of abdominal pain, vomiting, and seizure-like activity who was ultimately diagnosed with AIP. Her course was complicated by diagnostic delays and challenges managing severe refractory pain requiring prolonged courses of hemin in addition to a multimodal pain plan. This case highlights the diagnostic complexities and treatment challenges that patients with AIP face when navigating this challenging clinical syndrome and identifies an opportunity for increased awareness to guide the testing and treatment for AIP.