Acute intermittent porphyria (AIP) is the most common type of porphyria, a rare genetic disorder that follows an autosomal dominant inheritance pattern. It is characterized by a deficiency in hydroxymethylbilane synthase (HMBS), an enzyme involved in the heme biosynthetic pathway. This deficiency leads to the accumulation of porphyrins and their precursors in the body, resulting in tissue and organ damage. The penetrance of HMBS mutation is very low, with less than 1% of carriers experiencing acute attacks triggered by certain factors.
In this particular case, the patient presented with recurrent acute AIP episodes triggered by infection. The predominant symptoms were neurological and psychiatric in nature, including peripheral neuropathy, seizure-like episodes associated with central nervous system involvement, and symptoms related to autonomic nervous system dysfunction. Neurophysiological assessments revealed both axonal and myelin sheath involvement, primarily affecting the lower limbs. Brain magnetic resonance imaging conducted during the late stage of seizures did not show any notable lesions, resembling a presentation similar to posterior reversible encephalopathy syndrome (PRES). Autonomic nervous system symptoms mainly manifested as persistent nausea, vomiting, lower abdominal pain upon palpation, and tachycardia.
Once the diagnosis was confirmed, treatment involved administering hemin along with high-carbohydrate therapy and implementing rehabilitation exercises targeted at improving limb function. Throughout the treatment process, medications metabolized by P450 enzymes (such as barbitone, valproic acid, and metoclopramide) were avoided due to potential interactions or exacerbation of symptoms. Gradual recovery of muscle strength was observed in the patient’s condition over time.
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