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Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
BACKGROUND: Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent att...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433/ https://www.ncbi.nlm.nih.gov/pubmed/33639982 http://dx.doi.org/10.1186/s13023-021-01742-3 |
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author | Buendía-Martínez, Juan Barreda-Sánchez, María Rodríguez-Peña, Lidya Ballesta-Martínez, María Juliana López-González, Vanesa Sánchez-Soler, María José Serrano-Antón, Ana Teresa Pérez-Tomás, María Elena Gil-Ferrer, Remedios Avilés-Plaza, Francisco Glover-López, Guillermo Carazo-Díaz, Carmen Guillén-Navarro, Encarna |
author_facet | Buendía-Martínez, Juan Barreda-Sánchez, María Rodríguez-Peña, Lidya Ballesta-Martínez, María Juliana López-González, Vanesa Sánchez-Soler, María José Serrano-Antón, Ana Teresa Pérez-Tomás, María Elena Gil-Ferrer, Remedios Avilés-Plaza, Francisco Glover-López, Guillermo Carazo-Díaz, Carmen Guillén-Navarro, Encarna |
author_sort | Buendía-Martínez, Juan |
collection | PubMed |
description | BACKGROUND: Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent attacks. Our aim was to investigate these aspects in sporadic AIP (SA-AIP) and latent AIP (L-AIP) patients. Fifty-five participants, 27 SA-AIP (< 4 attacks/year) and 28 L-AIP patients with a prevalent founder mutation from Spain were included. Medical records were reviewed, and individual interviews, physical examinations, biochemical analyses, and abdominal ultrasound scans were conducted. HRQoL was assessed through an EQ-5D-5L questionnaire. A comparative study was made between SA-AIP and L-AIP patients. RESULTS: The earliest long-term clinical condition associated with SA-AIP was chronic kidney disease. Chronic symptoms were reported in 85.2 % of SA-AIP and 46.4 % of L-AIP patients. Unspecific abdominal pain, fatigue, muscle pain and insomnia were significantly more frequent in SA-AIP than in L-AIP patients. The EQ-5D-5L index was lower in SA-AIP (0.809 vs. 0.926, p = 0.0497), and the impact of “pain”, “anxiety-depression” and “mobility” was more intense in the EQ-5D-5L domains in SA-AIP than in L-AIP subjects and the general Spanish population. CONCLUSIONS: AIP remains a chronically symptomatic disease that adversely affects health and quality of life, even in patients with low rate of acute attacks. We suggest a regular monitoring of patients with symptomatic AIP regardless of their attack rate or the time since their last attack, with proper pain management and careful attention to kidney function. |
format | Online Article Text |
id | pubmed-7913433 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-79134332021-03-02 Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients Buendía-Martínez, Juan Barreda-Sánchez, María Rodríguez-Peña, Lidya Ballesta-Martínez, María Juliana López-González, Vanesa Sánchez-Soler, María José Serrano-Antón, Ana Teresa Pérez-Tomás, María Elena Gil-Ferrer, Remedios Avilés-Plaza, Francisco Glover-López, Guillermo Carazo-Díaz, Carmen Guillén-Navarro, Encarna Orphanet J Rare Dis Research BACKGROUND: Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent attacks. Our aim was to investigate these aspects in sporadic AIP (SA-AIP) and latent AIP (L-AIP) patients. Fifty-five participants, 27 SA-AIP (< 4 attacks/year) and 28 L-AIP patients with a prevalent founder mutation from Spain were included. Medical records were reviewed, and individual interviews, physical examinations, biochemical analyses, and abdominal ultrasound scans were conducted. HRQoL was assessed through an EQ-5D-5L questionnaire. A comparative study was made between SA-AIP and L-AIP patients. RESULTS: The earliest long-term clinical condition associated with SA-AIP was chronic kidney disease. Chronic symptoms were reported in 85.2 % of SA-AIP and 46.4 % of L-AIP patients. Unspecific abdominal pain, fatigue, muscle pain and insomnia were significantly more frequent in SA-AIP than in L-AIP patients. The EQ-5D-5L index was lower in SA-AIP (0.809 vs. 0.926, p = 0.0497), and the impact of “pain”, “anxiety-depression” and “mobility” was more intense in the EQ-5D-5L domains in SA-AIP than in L-AIP subjects and the general Spanish population. CONCLUSIONS: AIP remains a chronically symptomatic disease that adversely affects health and quality of life, even in patients with low rate of acute attacks. We suggest a regular monitoring of patients with symptomatic AIP regardless of their attack rate or the time since their last attack, with proper pain management and careful attention to kidney function. BioMed Central 2021-02-27 /pmc/articles/PMC7913433/ /pubmed/33639982 http://dx.doi.org/10.1186/s13023-021-01742-3 Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Buendía-Martínez, Juan Barreda-Sánchez, María Rodríguez-Peña, Lidya Ballesta-Martínez, María Juliana López-González, Vanesa Sánchez-Soler, María José Serrano-Antón, Ana Teresa Pérez-Tomás, María Elena Gil-Ferrer, Remedios Avilés-Plaza, Francisco Glover-López, Guillermo Carazo-Díaz, Carmen Guillén-Navarro, Encarna Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title | Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title_full | Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title_fullStr | Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title_full_unstemmed | Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title_short | Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
title_sort | health impact of acute intermittent porphyria in latent and non-recurrent attacks patients |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433/ https://www.ncbi.nlm.nih.gov/pubmed/33639982 http://dx.doi.org/10.1186/s13023-021-01742-3 |
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