Emergency Department Encounter with Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder characterized by deficiencies in porphobilinogen deaminase (PBGD) and the toxic accumulation of metabolites in the heme biosynthesis pathway. Diagnosing AIP is challenging due to its low prevalence and nonspecific symptoms, often resulting in delayed diagnosis and management. We present the case of a 39-year-old female with a five-year history of recurrent emergency department visits for severe intermittent abdominal pain with unremarkable laboratory workup and imaging each time. The patient was eventually diagnosed with AIP following genetic testing. Despite initial symptom improvement with intravenous heme therapy, the patient experienced recurrent episodes due to limited access to prophylactic treatment. Transitioning to givosiran reduced symptom frequency and improved her quality of life. This case highlights the diagnostic challenges of AIP, emphasizing the importance of taking detailed histories to identify patterns and potential triggers in patients with recurrent unexplained symptoms. Early identification and targeted management of AIP can prevent acute exacerbations and reduce complications. Increased clinician awareness can facilitate earlier recognition and management of this rare condition. Accurate identification of such cases may also inform further research into AIP’s prevalence and deepen understanding of its pathophysiology.