Psychiatric Disorder in Porphyria: A Case Series

A BSTRACT Porphyria is a group of rare genetic disorders that affect the heme production pathway due to specific enzyme abnormalities. These conditions present diverse clinical symptoms, including gastrointestinal, neurovisceral, cutaneous, neurological, and psychiatric issues. Because of this variability, porphyria can mimic many common illnesses, creating a diagnostic minefield. Psychiatric manifestations of porphyria can include anxiety, depression, phobias, psychosis, agitation, delirium, and altered consciousness. In psychiatry, porphyria is particularly significant because it can sometimes present solely with psychiatric symptoms, resembling psychosis and leading to prolonged misdiagnosis as schizophrenia. Here, we discuss three cases of porphyria that primarily exhibited psychiatric symptoms and emphasize the fact that precise diagnosis requires a comprehensive clinical evaluation and appropriate laboratory tests. A multidisciplinary approach, including psychiatric support, is essential to improve the quality of life for patients with porphyria.