• Etienne-Marie Jutant, Xavier Jaïs, Barbara Girerd, Laurent Savale, Maria-Rosa Ghigna, Frédéric Perros, Xavier Mignard, Mitja Jevnikar, Delphine Bourlier, Grégoire Prevot, Cécile Tromeur, Fabrice Bauer, Emmanuel Bergot, Claire Dauphin, Nicolas Favrolt, Julie Traclet, Thibaud Soumagne, Pascal De Groote, Céline Chabanne, Pascal Magro, Laurent Bertoletti, Jean-Pierre Gueffet, Ari Chaouat, François Goupil, Pamela Moceri, Raphael Borie, Elie Fadel, Pierre Wolkenstein, Pierre-Yves Brillet, Gérald Simonneau, Olivier Sitbon, Marc Humbert, and David Montani.
• School of Medicine, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
• Am. J. Respir. Crit. Care Med. 2020 Sep 15; 202 (6): 843-852.

AbstractRationale: Pulmonary hypertension (PH) associated with neurofibromatosis type 1 (NF1) is a rare and largely unknown complication of NF1.Objectives: To describe characteristics and outcomes of PH-NF1.Methods: We reported the clinical, functional, radiologic, histologic, and hemodynamic characteristics, response to pulmonary arterial hypertension (PAH)-approved drugs, and transplant-free survival of patients with PH-NF1 from the French PH registry.Measurements and Main Results: We identified 49 PH-NF1 cases, characterized by a female/male ratio of 3.9 and a median (minimum-maximum) age at diagnosis of 62 (18-82) years. At diagnosis, 92% were in New York Heart Association functional class III or IV. The 6-minute-walk distance was 211 (0-460) m. Pulmonary function tests showed low DlCO (30% [12-79%]) and severe hypoxemia (PaO2 56 [38-99] mm Hg). Right heart catheterization showed severe precapillary PH with a mean pulmonary artery pressure of 45 (10) mm Hg and a pulmonary vascular resistance of 10.7 (4.2) Wood units. High-resolution computed tomography images revealed cysts (76%), ground-glass opacities (73%), emphysema (49%), and reticulations (39%). Forty patients received PAH-approved drugs with a significant improvement in functional class and hemodynamic parameters. Transplant-free survival at 1, 3, and 5 years was 87%, 54%, and 42%, respectively, and four patients were transplanted. Pathologic assessment showed nonspecific interstitial pneumonia and major pulmonary vascular remodeling.Conclusions: PH-NF1 is characterized by a female predominance, a low DlCO, and severe functional and hemodynamic impairment. Despite a potential benefit of PAH treatment, prognosis remains poor, and double-lung transplantation is an option for eligible patients.

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