Clinical Challenges of Acute Porphyria in the Young Adult

Detalhes bibliográficos
Autor(a) principal: Burns, Shannon
Data de Publicação: 2022
Outros Autores: Harmel, Allison, Miller, Sally, Pucci, Gabriela Figueiredo [UNESP], Greco, Jonathan, Pulley, Michael, Pizzi, Michael
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1177/19418744211073029
http://hdl.handle.net/11449/230440
Resumo: Porphyria is a metabolic disorder caused by a mutation in the heme biosynthetic pathway, with vague symptomatology and rare prevalence. A triad of hyponatremia, intermittent seizures, and abdominal pain should raise suspicion for porphyria. The diagnosis is based on increased blood porphobilinogen levels and genetic mutations. Treatment involves Dextrose-10 administration followed by hematin infusions as soon as possible. A maintenance dose of hematin is required in some cases. Here, we report a delayed diagnosis of acute intermittent porphyria (AIP) in an 18-year-old female, who first presented with severe anemia attributed to iron deficiency from menstrual blood loss. After discharge, she was readmitted with bilateral lower extremity and abdominal pain, hyponatremia, and seizure attributed to polypharmacy. During this second hospitalization, she was transferred to our hospital complaining of chest pain, shortness of breath, markedly decreased weakness, dysphagia, and hallucinations. After an extensive workup, she was diagnosed with AIP, and Dextrose-10 and hemin infusion were started. Our patient was found to have a missense mutation in the Hydroxymethylbilane synthase gene. She recovered after an extended ICU stay of 45 days and was discharged with a moderate improvement of weakness. Early diagnosis is necessary to prevent severe manifestations and long-term sequelae, such as axonal neuropathy, which occurred in the presented case.
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spelling Clinical Challenges of Acute Porphyria in the Young Adultacute intermittent porphyriaclinical specialty, neuropathologyelectroencephalographyheminneurocritical caretechniquesPorphyria is a metabolic disorder caused by a mutation in the heme biosynthetic pathway, with vague symptomatology and rare prevalence. A triad of hyponatremia, intermittent seizures, and abdominal pain should raise suspicion for porphyria. The diagnosis is based on increased blood porphobilinogen levels and genetic mutations. Treatment involves Dextrose-10 administration followed by hematin infusions as soon as possible. A maintenance dose of hematin is required in some cases. Here, we report a delayed diagnosis of acute intermittent porphyria (AIP) in an 18-year-old female, who first presented with severe anemia attributed to iron deficiency from menstrual blood loss. After discharge, she was readmitted with bilateral lower extremity and abdominal pain, hyponatremia, and seizure attributed to polypharmacy. During this second hospitalization, she was transferred to our hospital complaining of chest pain, shortness of breath, markedly decreased weakness, dysphagia, and hallucinations. After an extensive workup, she was diagnosed with AIP, and Dextrose-10 and hemin infusion were started. Our patient was found to have a missense mutation in the Hydroxymethylbilane synthase gene. She recovered after an extended ICU stay of 45 days and was discharged with a moderate improvement of weakness. Early diagnosis is necessary to prevent severe manifestations and long-term sequelae, such as axonal neuropathy, which occurred in the presented case.University of Florida Health at JacksonvilleUniversity of FloridaDepartamento de Neurologia Psicologia e Psiquiatria UNESPUniversity of Florida College of Medicine - JacksonvilleDepartamento de Neurologia Psicologia e Psiquiatria UNESPUniversity of Florida Health at JacksonvilleUniversity of FloridaUniversidade Estadual Paulista (UNESP)University of Florida College of Medicine - JacksonvilleBurns, ShannonHarmel, AllisonMiller, SallyPucci, Gabriela Figueiredo [UNESP]Greco, JonathanPulley, MichaelPizzi, Michael2022-04-29T08:39:56Z2022-04-29T08:39:56Z2022-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1177/19418744211073029Neurohospitalist.1941-87521941-8744http://hdl.handle.net/11449/23044010.1177/194187442110730292-s2.0-85125107440Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengNeurohospitalistinfo:eu-repo/semantics/openAccess2024-08-16T15:45:16Zoai:repositorio.unesp.br:11449/230440Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-16T15:45:16Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Clinical Challenges of Acute Porphyria in the Young Adult
title Clinical Challenges of Acute Porphyria in the Young Adult
spellingShingle Clinical Challenges of Acute Porphyria in the Young Adult
Burns, Shannon
acute intermittent porphyria
clinical specialty, neuropathology
electroencephalography
hemin
neurocritical care
techniques
title_short Clinical Challenges of Acute Porphyria in the Young Adult
title_full Clinical Challenges of Acute Porphyria in the Young Adult
title_fullStr Clinical Challenges of Acute Porphyria in the Young Adult
title_full_unstemmed Clinical Challenges of Acute Porphyria in the Young Adult
title_sort Clinical Challenges of Acute Porphyria in the Young Adult
author Burns, Shannon
author_facet Burns, Shannon
Harmel, Allison
Miller, Sally
Pucci, Gabriela Figueiredo [UNESP]
Greco, Jonathan
Pulley, Michael
Pizzi, Michael
author_role author
author2 Harmel, Allison
Miller, Sally
Pucci, Gabriela Figueiredo [UNESP]
Greco, Jonathan
Pulley, Michael
Pizzi, Michael
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv University of Florida Health at Jacksonville
University of Florida
Universidade Estadual Paulista (UNESP)
University of Florida College of Medicine - Jacksonville
dc.contributor.author.fl_str_mv Burns, Shannon
Harmel, Allison
Miller, Sally
Pucci, Gabriela Figueiredo [UNESP]
Greco, Jonathan
Pulley, Michael
Pizzi, Michael
dc.subject.por.fl_str_mv acute intermittent porphyria
clinical specialty, neuropathology
electroencephalography
hemin
neurocritical care
techniques
topic acute intermittent porphyria
clinical specialty, neuropathology
electroencephalography
hemin
neurocritical care
techniques
description Porphyria is a metabolic disorder caused by a mutation in the heme biosynthetic pathway, with vague symptomatology and rare prevalence. A triad of hyponatremia, intermittent seizures, and abdominal pain should raise suspicion for porphyria. The diagnosis is based on increased blood porphobilinogen levels and genetic mutations. Treatment involves Dextrose-10 administration followed by hematin infusions as soon as possible. A maintenance dose of hematin is required in some cases. Here, we report a delayed diagnosis of acute intermittent porphyria (AIP) in an 18-year-old female, who first presented with severe anemia attributed to iron deficiency from menstrual blood loss. After discharge, she was readmitted with bilateral lower extremity and abdominal pain, hyponatremia, and seizure attributed to polypharmacy. During this second hospitalization, she was transferred to our hospital complaining of chest pain, shortness of breath, markedly decreased weakness, dysphagia, and hallucinations. After an extensive workup, she was diagnosed with AIP, and Dextrose-10 and hemin infusion were started. Our patient was found to have a missense mutation in the Hydroxymethylbilane synthase gene. She recovered after an extended ICU stay of 45 days and was discharged with a moderate improvement of weakness. Early diagnosis is necessary to prevent severe manifestations and long-term sequelae, such as axonal neuropathy, which occurred in the presented case.
publishDate 2022
dc.date.none.fl_str_mv 2022-04-29T08:39:56Z
2022-04-29T08:39:56Z
2022-01-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1177/19418744211073029
Neurohospitalist.
1941-8752
1941-8744
http://hdl.handle.net/11449/230440
10.1177/19418744211073029
2-s2.0-85125107440
url http://dx.doi.org/10.1177/19418744211073029
http://hdl.handle.net/11449/230440
identifier_str_mv Neurohospitalist.
1941-8752
1941-8744
10.1177/19418744211073029
2-s2.0-85125107440
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Neurohospitalist
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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