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Pulmonary hypertension associated with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “P...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
European Respiratory Society
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488681/ https://www.ncbi.nlm.nih.gov/pubmed/30158278 http://dx.doi.org/10.1183/16000617.0053-2018 |
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author | Jutant, Etienne-Marie Girerd, Barbara Jaïs, Xavier Savale, Laurent O'Connell, Caroline Perros, Frederic Sitbon, Olivier Humbert, Marc Montani, David |
author_facet | Jutant, Etienne-Marie Girerd, Barbara Jaïs, Xavier Savale, Laurent O'Connell, Caroline Perros, Frederic Sitbon, Olivier Humbert, Marc Montani, David |
author_sort | Jutant, Etienne-Marie |
collection | PubMed |
description | Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways. |
format | Online Article Text |
id | pubmed-9488681 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | European Respiratory Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-94886812022-11-14 Pulmonary hypertension associated with neurofibromatosis type 1 Jutant, Etienne-Marie Girerd, Barbara Jaïs, Xavier Savale, Laurent O'Connell, Caroline Perros, Frederic Sitbon, Olivier Humbert, Marc Montani, David Eur Respir Rev Series Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways. European Respiratory Society 2018-08-29 /pmc/articles/PMC9488681/ /pubmed/30158278 http://dx.doi.org/10.1183/16000617.0053-2018 Text en Copyright ©ERS 2018. https://creativecommons.org/licenses/by-nc/4.0/ERR articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. |
spellingShingle | Series Jutant, Etienne-Marie Girerd, Barbara Jaïs, Xavier Savale, Laurent O'Connell, Caroline Perros, Frederic Sitbon, Olivier Humbert, Marc Montani, David Pulmonary hypertension associated with neurofibromatosis type 1 |
title | Pulmonary hypertension associated with neurofibromatosis type 1 |
title_full | Pulmonary hypertension associated with neurofibromatosis type 1 |
title_fullStr | Pulmonary hypertension associated with neurofibromatosis type 1 |
title_full_unstemmed | Pulmonary hypertension associated with neurofibromatosis type 1 |
title_short | Pulmonary hypertension associated with neurofibromatosis type 1 |
title_sort | pulmonary hypertension associated with neurofibromatosis type 1 |
topic | Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488681/ https://www.ncbi.nlm.nih.gov/pubmed/30158278 http://dx.doi.org/10.1183/16000617.0053-2018 |
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