Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis. As a result, neurotoxic porphyrin precursors and light-sensitive porphyrins accumulate, while dysfunction in their targe...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-10-01
|
| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.993453/full |
| _version_ | 1811246010571161600 |
|---|---|
| author | Edwige Collaud Luis Wittwer Luis Wittwer Anna-Elisabeth Minder Jean-Marie Annoni Elisabeth I. Minder Joelle N. Chabwine Joelle N. Chabwine |
| author_facet | Edwige Collaud Luis Wittwer Luis Wittwer Anna-Elisabeth Minder Jean-Marie Annoni Elisabeth I. Minder Joelle N. Chabwine Joelle N. Chabwine |
| author_sort | Edwige Collaud |
| collection | DOAJ |
| description | Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis. As a result, neurotoxic porphyrin precursors and light-sensitive porphyrins accumulate, while dysfunction in their targets determines the disease symptoms. Variegate porphyria (VP), one of the acute hepatic porphyrias, is caused by a protoporphyrinogen oxidase (PPOX) mutation. During acute attacks, among other factors, triggered by drugs, stressors, or fasting, an increase in urinary and fecal porphobilinogen (PBG), aminolevulinic acid (ALA), and porphyrins occurs, damaging the autonomous, peripheral, or central nervous system. The disease remains often latent or displays minimal symptoms usually overlooked, exposing undiagnosed patients to potentially serious complications in the presence of the aforementioned triggers.Case report: This 46-year-old woman presented, some days after a bariatric surgery, with severe flaccid tetraparesis and neuropathic pain, initially misdiagnosed as a functional neurological disorder. The severe axonal sensorimotor polyneuropathy led to further investigations, disclosing high urinary porphobilinogen, ALA, and porphyrin levels due to a new PPOX mutation. Retrospectively, it appeared that the patient had had typical VP symptoms (abdominal pain, fragile skin, and dark urine episodes) for years prior to the surgery. Treated with carbohydrate load, neurorehabilitation, and analgesics, she slowly recovered to full mobility, with partial autonomy in her daily life activities, although fatigue and severe pain persisted, preventing her from returning to work.Conclusion: This case documents gastric bypass surgery as a trigger of severe VP invalidating neurological symptoms and illustrates how the delayed diagnosis and post-interventional complications could have been prevented by screening for porphyria cardinal symptoms prior to the intervention. Likewise, this cost-effective screening should be performed before any treatment influencing the diet, which would dramatically improve the porphyria diagnosis rate and outcome. |
| first_indexed | 2024-04-12T14:47:35Z |
| format | Article |
| id | doaj.art-f98a16d4673c41c694c109716c6fbe02 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T14:47:35Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-f98a16d4673c41c694c109716c6fbe022022-12-22T03:28:36ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-10-011310.3389/fgene.2022.993453993453Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathyEdwige Collaud0Luis Wittwer1Luis Wittwer2Anna-Elisabeth Minder3Jean-Marie Annoni4Elisabeth I. Minder5Joelle N. Chabwine6Joelle N. Chabwine7Division of Neurorehabilitation, Fribourg Hospital Meyriez/Murten, Fribourg, SwitzerlandDivision of Neurorehabilitation, Fribourg Hospital Meyriez/Murten, Fribourg, SwitzerlandDivision of Medicine, Emmental Hospital, Burgdorf, SwitzerlandDivision of Endocrinology, Diabetology, Porphyria, Triemli Hospital, Zurich, SwitzerlandNeurology Unit, Laboratory for Cognitive and Neurological Science, Department of Neuroscience and Movement Science, Faculty of Science and Medicine, University of Fribourg, Fribourg, SwitzerlandDivision of Endocrinology, Diabetology, Porphyria, Triemli Hospital, Zurich, SwitzerlandDivision of Neurorehabilitation, Fribourg Hospital Meyriez/Murten, Fribourg, SwitzerlandNeurology Unit, Laboratory for Cognitive and Neurological Science, Department of Neuroscience and Movement Science, Faculty of Science and Medicine, University of Fribourg, Fribourg, SwitzerlandBackground and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis. As a result, neurotoxic porphyrin precursors and light-sensitive porphyrins accumulate, while dysfunction in their targets determines the disease symptoms. Variegate porphyria (VP), one of the acute hepatic porphyrias, is caused by a protoporphyrinogen oxidase (PPOX) mutation. During acute attacks, among other factors, triggered by drugs, stressors, or fasting, an increase in urinary and fecal porphobilinogen (PBG), aminolevulinic acid (ALA), and porphyrins occurs, damaging the autonomous, peripheral, or central nervous system. The disease remains often latent or displays minimal symptoms usually overlooked, exposing undiagnosed patients to potentially serious complications in the presence of the aforementioned triggers.Case report: This 46-year-old woman presented, some days after a bariatric surgery, with severe flaccid tetraparesis and neuropathic pain, initially misdiagnosed as a functional neurological disorder. The severe axonal sensorimotor polyneuropathy led to further investigations, disclosing high urinary porphobilinogen, ALA, and porphyrin levels due to a new PPOX mutation. Retrospectively, it appeared that the patient had had typical VP symptoms (abdominal pain, fragile skin, and dark urine episodes) for years prior to the surgery. Treated with carbohydrate load, neurorehabilitation, and analgesics, she slowly recovered to full mobility, with partial autonomy in her daily life activities, although fatigue and severe pain persisted, preventing her from returning to work.Conclusion: This case documents gastric bypass surgery as a trigger of severe VP invalidating neurological symptoms and illustrates how the delayed diagnosis and post-interventional complications could have been prevented by screening for porphyria cardinal symptoms prior to the intervention. Likewise, this cost-effective screening should be performed before any treatment influencing the diet, which would dramatically improve the porphyria diagnosis rate and outcome.https://www.frontiersin.org/articles/10.3389/fgene.2022.993453/fullvariegate porphyriapainpolyneuropathygastric bypassbariatric surgeryPPOX mutation |
| spellingShingle | Edwige Collaud Luis Wittwer Luis Wittwer Anna-Elisabeth Minder Jean-Marie Annoni Elisabeth I. Minder Joelle N. Chabwine Joelle N. Chabwine Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy Frontiers in Genetics variegate porphyria pain polyneuropathy gastric bypass bariatric surgery PPOX mutation |
| title | Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| title_full | Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| title_fullStr | Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| title_full_unstemmed | Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| title_short | Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| title_sort | case report variegate porphyria disclosed by post gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy |
| topic | variegate porphyria pain polyneuropathy gastric bypass bariatric surgery PPOX mutation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.993453/full |
| work_keys_str_mv | AT edwigecollaud casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT luiswittwer casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT luiswittwer casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT annaelisabethminder casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT jeanmarieannoni casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT elisabethiminder casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT joellenchabwine casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy AT joellenchabwine casereportvariegateporphyriadisclosedbypostgastricbypasscomplicationsandcausingpredominantpainfulsensorimotoraxonalperipheralneuropathy |