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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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-07-01
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| 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. |
| format | Article |
| id | doaj-art-d195a91a0beb4ae9954798330c8081fd |
| institution | Kabale University |
| issn | 2589-8302 2589-8310 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| 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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