Psychiatric Disorder in Porphyria: A Case Series

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, po...

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Main Authors: Poulomi Ghosh, Prashant Bhardwaj, Suprakash Chaudhury, Alisha Kumari
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-07-01
Series:Medical Journal of Dr. D.Y. Patil Vidyapeeth
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Online Access:https://journals.lww.com/10.4103/mjdrdypu.mjdrdypu_169_24
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author Poulomi Ghosh
Prashant Bhardwaj
Suprakash Chaudhury
Alisha Kumari
author_facet Poulomi Ghosh
Prashant Bhardwaj
Suprakash Chaudhury
Alisha Kumari
author_sort Poulomi Ghosh
collection DOAJ
description 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.
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publisher Wolters Kluwer Medknow Publications
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series Medical Journal of Dr. D.Y. Patil Vidyapeeth
spelling doaj-art-d195a91a0beb4ae9954798330c8081fd2025-08-20T04:00:48ZengWolters Kluwer Medknow PublicationsMedical Journal of Dr. D.Y. Patil Vidyapeeth2589-83022589-83102025-07-0118469369610.4103/mjdrdypu.mjdrdypu_169_24Psychiatric Disorder in Porphyria: A Case SeriesPoulomi GhoshPrashant BhardwajSuprakash ChaudhuryAlisha KumariPorphyria 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.https://journals.lww.com/10.4103/mjdrdypu.mjdrdypu_169_24acute intermittent porphyriamorphogenic medicationneuropsychiatric manifestationporphobilinogen
spellingShingle Poulomi Ghosh
Prashant Bhardwaj
Suprakash Chaudhury
Alisha Kumari
Psychiatric Disorder in Porphyria: A Case Series
Medical Journal of Dr. D.Y. Patil Vidyapeeth
acute intermittent porphyria
morphogenic medication
neuropsychiatric manifestation
porphobilinogen
title Psychiatric Disorder in Porphyria: A Case Series
title_full Psychiatric Disorder in Porphyria: A Case Series
title_fullStr Psychiatric Disorder in Porphyria: A Case Series
title_full_unstemmed Psychiatric Disorder in Porphyria: A Case Series
title_short Psychiatric Disorder in Porphyria: A Case Series
title_sort psychiatric disorder in porphyria a case series
topic acute intermittent porphyria
morphogenic medication
neuropsychiatric manifestation
porphobilinogen
url https://journals.lww.com/10.4103/mjdrdypu.mjdrdypu_169_24
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AT prashantbhardwaj psychiatricdisorderinporphyriaacaseseries
AT suprakashchaudhury psychiatricdisorderinporphyriaacaseseries
AT alishakumari psychiatricdisorderinporphyriaacaseseries