Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1

Jutant, Étienne-Marie; Jaïs, Xavier; Girerd, Barbara; Savale, Laurent; Ghigna, Maria-Rosa; Perros, Frédèric; Mignard, Xavier; Jevnikar, Mitja; Bourlier, Delphine; Prévôt, Grégoire; Tromeur, Cécile; Dauphin, Claire; Favrolt, Nicolas; Traclet, Julie; Soumagne, Thibaud; Groote, P. De; Chabanne, Céline; Magro, Pascal; Bertoletti, Laurent; Chaouat, Ari; Goupil, F.; Moceri, Pamela; Borie, R.; Fadel, Élie; Wolkenstein, Pierre; Brillet, Pierre-Yves; Simonneau, Gérald; Sitbon, Olivier; Humbert, Marc; Montani, David

doi:10.1164/rccm.202001-0105oc

Cited by 16 publications

(16 citation statements)

References 36 publications

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“…The majority of patients had normal or mildly abnormal spirometry, with decreased diffusion capacity for carbon monoxide (median 30% predicted) and resting hypoxemia. Imaging was most frequently notable for diffuse lung cysts, ground glass opacities, and emphysema (187). Importantly, this series and another literature review have identified normal imaging or single radiologic abnormalities in nearly 30% of NF1-PH patients (184,187).…”

Section: Neurofibromatosis Typementioning

confidence: 60%

“…Imaging was most frequently notable for diffuse lung cysts, ground glass opacities, and emphysema (187). Importantly, this series and another literature review have identified normal imaging or single radiologic abnormalities in nearly 30% of NF1-PH patients (184,187). Lung tissue has been infrequently available; the few histologic studies have demonstrated arterial remodeling with muscularization of small arterioles as well as particular increase in intimal layer thickness (187,188).…”

Section: Neurofibromatosis Typementioning

confidence: 71%

“…Importantly, this series and another literature review have identified normal imaging or single radiologic abnormalities in nearly 30% of NF1-PH patients (184,187). Lung tissue has been infrequently available; the few histologic studies have demonstrated arterial remodeling with muscularization of small arterioles as well as particular increase in intimal layer thickness (187,188). Findings of thrombosis have not been noted, and presence of plexiform lesions has been variable (187,189).…”

Section: Neurofibromatosis Typementioning

confidence: 78%

“…Lung tissue has been infrequently available; the few histologic studies have demonstrated arterial remodeling with muscularization of small arterioles as well as particular increase in intimal layer thickness (187,188). Findings of thrombosis have not been noted, and presence of plexiform lesions has been variable (187,189). Three patients undergoing transplant all had pulmonary venous wall thickening (187), and a patient with pulmonary capillary hemangiomatosis associated with NF1 has also been reported (190).…”

Section: Neurofibromatosis Typementioning

confidence: 99%

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Epidemiology, Pathogenesis, and Clinical Approach in Group 5 Pulmonary Hypertension

2021

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Pulmonary hypertension (PH) is recognized to be associated with a number of comorbid conditions. Based on these associations, PH is classified into 5 groups, considering common pathophysiologic drivers of disease, histopathologic features, clinical manifestations and course, and response to PH therapy. However, in some of these associated conditions, these characteristics are less well-understood. These include, among others, conditions commonly encountered in clinical practice such as sarcoidosis, sickle cell disease, myeloproliferative disorders, and chronic kidney disease/end stage renal disease. PH in these contexts presents a significant challenge to clinicians with respect to disease management. The most recent updated clinical classification schemata from the 6th World Symposium on PH classifies such entities in Group 5, highlighting the often unclear and/or multifactorial nature of PH. An in-depth review of the state of the science of Group 5 PH with respect to epidemiology, pathogenesis, and management is provided. Where applicable, future directions with respect to research needed to enhance understanding of the clinical course of these entities is also discussed.

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Section: Neurofibromatosis Typementioning

confidence: 60%

Section: Neurofibromatosis Typementioning

confidence: 71%

Section: Neurofibromatosis Typementioning

confidence: 78%

Section: Neurofibromatosis Typementioning

confidence: 99%

See 2 more Smart Citations

Epidemiology, Pathogenesis, and Clinical Approach in Group 5 Pulmonary Hypertension

2021

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“…In this issue of the Journal , Jutant and colleagues (pp. 843–852 ) describe a little-appreciated aspect of NF1, pulmonary hypertension (PH) ( 3 ).…”

mentioning

confidence: 99%

The Elephant Man Meets Pulmonary Hypertension. A Cautionary Tale

Ruopp

Farber

2020

Am J Respir Crit Care Med

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Stolk and colleagues provide the first in vivo human evidence that norepinephrine exerts antiinflammatory effects (11). Given that septic shock is associated with profound suppression of a variety of innate and adaptive immune responses, norepinephrine administration may further tip the balance toward impaired immunity in an already vulnerable host. Though norepinephrine remains the best option for the management of vascular dysfunction in septic shock, efforts should be pursued to get the best from its wanted hemodynamic properties while limiting its unwanted immunological side effects. n Author disclosures are available with the text of this article at www.atsjournals.org.

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