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Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder characterized by defective porphyrin metabolism in the blood. It manifests through variable clinical features, among these are abdominal pain, nausea, vomiting, peripheral neuropathy, and seizure. The diverse presentation of AIP poses substantial diagnostic challenges due to its potential to mimic other medical conditions, delaying early recognition and intervention. Management strategies of AIP involve a multifaceted approach, focusing on symptom relief and attack cessation. Early recognition and intervention are pivotal in optimizing patient outcomes, highlighting the importance of heightened clinical suspicion and precise diagnostic pathways. We present a unique case of a 34-year-old female who presented to the emergency department with severe abdominal pain, oliguria, and progressive sensory and motor deficits. Despite exhibiting hallmark symptoms suggestive of AIP, the absence of distinctive "attack periods" added complexity to the diagnostic process, requiring the exclusion of other medical conditions with similar overlapping symptoms.
Norman et al. (Wed,) studied this question.