scholarly journals Pulmonary Hypertension: A Fatal Complication of Neurofibromatosis Type 1

2011 ◽  
Vol 56 (11) ◽  
pp. 1844-1848 ◽  
Author(s):  
L. Gumbiene ◽  
Z. Petrulioniene ◽  
K. Rucinskas ◽  
V. Maneikiene ◽  
P. Serpytis ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Fatal Complication

scholarly journals Pulmonary hypertension associated with neurofibromatosis type 1

2018 ◽  
Vol 27 (149) ◽  
pp. 180053 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Barbara Girerd ◽  
Xavier Jaïs ◽  
Laurent Savale ◽  
Caroline O'Connell ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Disease ◽  
Increased Risk ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

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.

Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1

2020 ◽  
Vol 202 (6) ◽  
pp. 843-852 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Xavier Jaïs ◽  
Barbara Girerd ◽  
Laurent Savale ◽  
Maria-Rosa Ghigna ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1)

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Seiya Tanaka ◽  
Fuko Kawahara ◽  
Taro Miyamoto ◽  
Satoshi Tsurusaki ◽  
Yoshihito Sanuki ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Pressure ◽  
Arterial Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Pulmonary Arterial Pressure ◽  
Neurofibromatosis Type ◽  
Mean Pulmonary Arterial Pressure ◽  
Pulmonary Arterial

A 56-year-old woman was diagnosed as having chronic obstructive pulmonary disease with heavy smoking. Mild pulmonary hypertension (mean pulmonary arterial pressure: 31 mmHg) was detected at the first visit. She was diagnosed with pulmonary hypertension due to pulmonary disease and medicated only with bronchodilators. Simultaneous, multiple freckling in the trunk of her body and café au lait macules in her back with some cutaneous neurofibromas were also detected. A plastic surgeon removed one of the neurofibromas and pathologically diagnosed it as neurofibromatosis type 1 (NF1). We finally rediagnosed her with pulmonary hypertension with unclear and/or multifactorial factors when she deteriorated 1 year after being treated only with bronchodilators. We then administrated upfront combination therapy with macitentan and tadalafil. Mean pulmonary arterial pressure rapidly improved. Learning Objective. Pulmonary arterial hypertension (PAH) in neurofibromatosis type 1 (NF1) can occur due to lung disease or due to certain involvement of pulmonary arteries, or a combination of both. Increased awareness of PAH in NF1 is very important for patients survival. The current therapeutic strategy is almost identical to that of idiopathic PAH; however, there is no clinical evidence. Insights gained from clinical experiences should help identify promising novel therapeutic approaches in NF1-PAH.

scholarly journals A 63-Year-Old Woman With Neurofibromatosis Type 1 and Pulmonary Hypertension With Worsening Hypoxemia

CHEST Journal ◽  
2017 ◽  
Vol 152 (4) ◽  
pp. e89-e93 ◽  
Author(s):  
Udit Chaddha ◽  
Ioan Puscas ◽  
Ashley Prosper ◽  
Sivagini Ganesh ◽  
Bassam Yaghmour
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Pulmonary Hypertension in Patient with Neurofibromatosis Type 1

2017 ◽  
Vol 32 (2) ◽  
pp. 227 ◽  
Author(s):  
Yeong min Lee ◽  
Tae Hyun Yang ◽  
HeeSoo Jung ◽  
Tae-Seon Oh ◽  
Jeong-Hoon Song ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

2019 ◽  
Vol 27 ◽  
pp. 100832
Author(s):  
Melanie Rojas ◽  
Ateeq Mubarik ◽  
Elizabeth Ann Henderson ◽  
Fatima Agha ◽  
Lakshpaul Chauhan ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Fatal Complication ◽  
Pulmonary Arterial

scholarly journals An Uncommon Incidence of Pulmonary Hypertension Associated With Neurofibromatosis Type 1: A Case Report

2021 ◽  
Vol 9 ◽  
pp. 232470962110328
Author(s):  
Suman Rao ◽  
Alisha Khan ◽  
Parth Sampat ◽  
Michael Sandhu ◽  
Andrew M. Weinberg
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Right Heart Catheterization ◽  
Heart Catheterization ◽  
Endothelin Receptor ◽  
Presenting Symptoms ◽  
Difficult Condition ◽  
Phosphodiesterase 5

Pulmonary hypertension (PH) is often a difficult condition to diagnose, since it occurs insidiously and is a diagnosis of exclusion. Patients with neurofibromatosis type 1 (NFT1) have been associated with severe exacerbations of PH. To our knowledge, less than 20 cases of PH in NFT1 patients have been reported. However, the severity of presenting symptoms requires physicians to be aware of this association and pursue the appropriate diagnostic workup. In our report, we present a 54-year-old NFT1 patient who presented with worsening dyspnea secondary to PH, which was being treated with trepostanil and macitetan. She required a right heart catheterization to assess her pulmonary artery pressures (which remained elevated). She was placed on tadalafil in addition to trepostanil and macitetan and noted significant resolution of her symptoms. Further studies are required to explore the association between PH and NFT1 and examine the efficacy of triple therapy with endothelin receptor antagonists, phosphodiesterase 5 inhibitors, and parenteral prostanoids in the initial treatment of PH in the aforementioned patient population.

scholarly journals Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report

2013 ◽  
Vol 85 (5) ◽  
pp. 521
Author(s):  
Soo Jin Na ◽  
Hye Yeon Lee ◽  
Hyun Seon Kim ◽  
Hyeon Jin Seong ◽  
Bu Seok Jeon ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

Macitentan Use in a Neurofibromatosis Type 1 Patient With Pulmonary Hypertension and External Jugular Phlebectasia

2018 ◽  
Vol 25 (5) ◽  
pp. e587-e590
Author(s):  
Michele Correale ◽  
Nicola Tarantino ◽  
Giuseppe Paradiso ◽  
Ilenia Monaco ◽  
Matteo Di Biase ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Jugular Phlebectasia
Sign in / Sign up

Export Citation Format

Share Document