Acute intermittent porphyria (AIP) is the most prevalent form of porphyria, a rare autosomal dominant genetic disorder characterized by a deficiency in hydroxymethylbilane synthase (HMBS), an enzyme involved in the heme biosynthetic pathway. This leads to the accumulation of porphyrins and their precursors in the body, resulting in tissue and organ damage. The penetrance of HMBS deficiency is low, with acute attacks occurring in less than 1% of individuals carrying the gene mutation under certain triggering factors.
In this particular case, the patient experienced recurrent episodes of acute AIP attacks triggered by infection. The predominant symptoms were neurological and psychiatric, including peripheral neuropathy, seizures, and involvement of the autonomic nervous system. Neurophysiological findings indicated that both axons and myelin sheaths were affected, with a specific focus on the lower limbs. Brain magnetic resonance imaging conducted during seizure episodes did not reveal any apparent lesions, resembling a presentation similar to posterior reversible encephalopathy syndrome (PRES). Autonomic nervous system symptoms mainly manifested as persistent nausea, vomiting, hypotension, and tachycardia.
Once the diagnosis was confirmed, the patient underwent treatment with heme arginate and high-carbohydrate therapy. Rehabilitation exercises targeting limb function were also implemented. Throughout the treatment process, medications metabolized by P450 enzymes (such as barbiturates, valproic acid, and metoclopramide) were avoided due to potential interactions or adverse effects. Gradual recovery of muscle strength was observed in the patient’s condition.
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