A case of acute intermittent porphyria attack with psychiatric symptoms in a female resolving with the removal of stressors and lack of medical treatment

Acute intermittent porphyria (AIP) is a rare autosomal dominant disease that is caused by heterozygosity for a pathogenic variant in the gene encoding porphobilinogen deaminase, also called hydroxymethylbilane synthase. Blockage of this enzyme leads to the accumulation of heme pathway precursors, which in turn results in the classic symptoms of severe abdominal pain, weakness, nausea, vomiting, constipation and darkened urine. It may also lead to less common symptoms of severe neurological symptoms, such as neuropathy and seizures, and psychiatric disturbances including anxiety, depression and psychosis. Shared in this paper is the case of a 39-year-old female with a past medical history of AIP and polysubstance use disorder who presented to the emergency room with complaints of intermittent auditory and visual hallucinations for one year. It was determined that this patient likely presented with an acute intermittent porphyria attack consisting solely of psychiatric symptoms. Resolution of the attack was achieved by removing stressors and discontinuing CYP-inducing substances; antipsychotic medications were not needed. Our case is of clinical importance as not many cases of AIP attacks with psychiatric manifestation as the primary complaint have been documented. Therefore, treatment of AIP-induced psychosis is not well studied. It is important to keep AIP on the differential for a patient presenting with acute psychotic symptoms. Additionally, it is imperative to bring awareness to the fact that providing the patient with a therapeutic environment (removal of stressors), as well as discontinuing any CYP-inducing substances and/or medications could be enough to provide resolution of symptoms.