From the Research
Pulmonary complications of Neurofibromatosis Type 1 (NF1) include interstitial lung disease, pulmonary hypertension, pulmonary arterial hypertension, bullous lung disease, and pulmonary fibrosis, with the most recent and highest quality study suggesting that these complications can be severe and life-threatening 1.
Key Complications
- Interstitial lung disease
- Pulmonary hypertension
- Pulmonary arterial hypertension
- Bullous lung disease
- Pulmonary fibrosis
Clinical Presentation
Patients with NF1 may develop neurofibromas within the airways or lung parenchyma, causing obstruction or restrictive lung disease, and chest wall deformities such as scoliosis can further compromise respiratory function 2. Pulmonary vasculopathy may occur due to the involvement of blood vessels, leading to hemoptysis in some cases, and sleep-disordered breathing is also more prevalent in NF1 patients 3.
Management
Management typically involves regular pulmonary function testing, chest imaging, and treatment of specific complications as they arise, with the goal of early diagnosis and symptom relief 4. For patients with significant respiratory symptoms, consultation with a pulmonologist experienced in NF1 is recommended for comprehensive evaluation and tailored treatment approaches 1.
Prevention
Smoking cessation is crucial in preventing pulmonary complications, particularly neurofibromatosis-associated diffuse lung disease (NF-DLD), which can be prevented by quitting smoking 1.
Diagnosis
Computed tomography (CT) is highly accurate for the identification and characterization of NF-DLD, and high-resolution CT of the chest is recommended for patients with NF1 presenting with pulmonary symptoms 2, 1.