Severe dyspnea in a patient with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2017-01-01
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| Series: | Respiratory Medicine Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007117301831 |
| _version_ | 1819156279712546816 |
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| author | P.B. Poble J.C. Dalphin B. Degano |
| author_facet | P.B. Poble J.C. Dalphin B. Degano |
| author_sort | P.B. Poble |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary parenchymal lesions makes etiological diagnosis of PH difficult. We describe here the case of a patient with NF1 admitted to our clinic with dyspnea and right heart failure revealing severe pre-capillary PH. Parenchymal lesions were mild and PH was attributed to pulmonary vascular involvement. Clinical and hemodynamic conditions of the patient improved under pulmonary arterial hypertension-specific combination therapy. This case suggests that treatment of PH due to pulmonary vascular involvement in NF1 may be aligned with recommendations for PAH treatment. |
| first_indexed | 2024-12-22T15:50:21Z |
| format | Article |
| id | doaj.art-046c4f9262d442458a0cffe8fb8bef80 |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-12-22T15:50:21Z |
| publishDate | 2017-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-046c4f9262d442458a0cffe8fb8bef802022-12-21T18:20:54ZengElsevierRespiratory Medicine Case Reports2213-00712017-01-0122C747610.1016/j.rmcr.2017.06.008Severe dyspnea in a patient with neurofibromatosis type 1P.B. Poble0J.C. Dalphin1B. Degano2Department of Respiratory Diseases, University Hospital of Besançon, Besançon, FranceDepartment of Respiratory Diseases, University Hospital of Besançon, Besançon, FranceDepartment of Physiology and Respiratory Investigation, University Hospital of Besançon, Besançon, FranceNeurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary parenchymal lesions makes etiological diagnosis of PH difficult. We describe here the case of a patient with NF1 admitted to our clinic with dyspnea and right heart failure revealing severe pre-capillary PH. Parenchymal lesions were mild and PH was attributed to pulmonary vascular involvement. Clinical and hemodynamic conditions of the patient improved under pulmonary arterial hypertension-specific combination therapy. This case suggests that treatment of PH due to pulmonary vascular involvement in NF1 may be aligned with recommendations for PAH treatment.http://www.sciencedirect.com/science/article/pii/S2213007117301831 |
| spellingShingle | P.B. Poble J.C. Dalphin B. Degano Severe dyspnea in a patient with neurofibromatosis type 1 Respiratory Medicine Case Reports |
| title | Severe dyspnea in a patient with neurofibromatosis type 1 |
| title_full | Severe dyspnea in a patient with neurofibromatosis type 1 |
| title_fullStr | Severe dyspnea in a patient with neurofibromatosis type 1 |
| title_full_unstemmed | Severe dyspnea in a patient with neurofibromatosis type 1 |
| title_short | Severe dyspnea in a patient with neurofibromatosis type 1 |
| title_sort | severe dyspnea in a patient with neurofibromatosis type 1 |
| url | http://www.sciencedirect.com/science/article/pii/S2213007117301831 |
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