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Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy

BACKGROUND: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients. This study describes the diversity of acute symptoms, changes in tr...

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Autores principales: Baumann, Katrin, Kauppinen, Raili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856918/
https://www.ncbi.nlm.nih.gov/pubmed/35242573
http://dx.doi.org/10.1016/j.ymgmr.2022.100842
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author Baumann, Katrin
Kauppinen, Raili
author_facet Baumann, Katrin
Kauppinen, Raili
author_sort Baumann, Katrin
collection PubMed
description BACKGROUND: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients. This study describes the diversity of acute symptoms, changes in triggering factors and life expectancy among female patients during the past five decades. METHODS: 107 Finnish female patients were enrolled into a retrospective, longitudinal study during 2015. Clinical, biochemical and genetic data was obtained from the medical reports, registry data and a questionnaire designed for the study. Causes of death were studied in additional 32 female patients. RESULTS: Of the 43 patients with hospitalization, 33% had non-complicated, 35% prolonged and 28% severe attacks with no correlation with the disease-causing mutation. Of the deceased patients, 31% died of an acute attack during 1957–1979. Thereafter the incidence and severity of acute attacks have decreased substantially. 55% of the subjects reported acute symptoms (dysautonomia and mental symptoms) without hospitalization, 29% had porphyria symptoms >10 times, and 23% within the last year. Despite 22% of the female patients had died of primary liver cancer, the life expectancy increased more than 10 years during the follow-up, and did not differ from the normal population at present. CONCLUSIONS: The incidence of acute attacks requiring hospitalization has decreased, but more than half of the female patients reported acute symptoms affecting their well-being. Symptoms are currently triggered by hormonal changes and weight loss emphasizing the importance of early recognition and active management to avoid disease exacerbation. Death due to primary liver cancer is common and should be screened regularly.
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spelling pubmed-88569182022-03-02 Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy Baumann, Katrin Kauppinen, Raili Mol Genet Metab Rep Research Paper BACKGROUND: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients. This study describes the diversity of acute symptoms, changes in triggering factors and life expectancy among female patients during the past five decades. METHODS: 107 Finnish female patients were enrolled into a retrospective, longitudinal study during 2015. Clinical, biochemical and genetic data was obtained from the medical reports, registry data and a questionnaire designed for the study. Causes of death were studied in additional 32 female patients. RESULTS: Of the 43 patients with hospitalization, 33% had non-complicated, 35% prolonged and 28% severe attacks with no correlation with the disease-causing mutation. Of the deceased patients, 31% died of an acute attack during 1957–1979. Thereafter the incidence and severity of acute attacks have decreased substantially. 55% of the subjects reported acute symptoms (dysautonomia and mental symptoms) without hospitalization, 29% had porphyria symptoms >10 times, and 23% within the last year. Despite 22% of the female patients had died of primary liver cancer, the life expectancy increased more than 10 years during the follow-up, and did not differ from the normal population at present. CONCLUSIONS: The incidence of acute attacks requiring hospitalization has decreased, but more than half of the female patients reported acute symptoms affecting their well-being. Symptoms are currently triggered by hormonal changes and weight loss emphasizing the importance of early recognition and active management to avoid disease exacerbation. Death due to primary liver cancer is common and should be screened regularly. Elsevier 2022-02-02 /pmc/articles/PMC8856918/ /pubmed/35242573 http://dx.doi.org/10.1016/j.ymgmr.2022.100842 Text en © 2022 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Research Paper
Baumann, Katrin
Kauppinen, Raili
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title_full Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title_fullStr Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title_full_unstemmed Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title_short Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
title_sort long-term follow-up of acute porphyria in female patients: update of clinical outcome and life expectancy
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856918/
https://www.ncbi.nlm.nih.gov/pubmed/35242573
http://dx.doi.org/10.1016/j.ymgmr.2022.100842
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