From the Guidelines
Newly identified rare pulmonary diseases include idiopathic pleuroparenchymal fibroelastosis, lymphangioleiomyomatosis, and pulmonary alveolar proteinosis, which can cause significant morbidity and mortality if not properly managed. These diseases are often diagnosed through a combination of genetic testing, high-resolution CT imaging, and lung biopsies 1.
- Idiopathic pleuroparenchymal fibroelastosis is a rare disease characterized by upper lobe fibrosis and pleural thickening, typically managed with immunosuppressants like mycophenolate mofetil or cyclophosphamide.
- Lymphangioleiomyomatosis is a rare lung disease that occurs sporadically or in association with the genetic disease tuberous sclerosis complex, often requiring supportive treatment including management of airflow obstruction and hypoxaemia with bronchodilators and oxygen respectively 1.
- Pulmonary alveolar proteinosis involves accumulation of surfactant proteins in the alveoli, often requiring whole lung lavage treatment. Other emerging entities include COPA syndrome causing interstitial lung disease with autoimmune features, and STING-associated vasculopathy with onset in infancy causing pulmonary fibrosis 1.
- Early diagnosis is crucial as these diseases can progress rapidly, causing irreversible lung damage if not properly managed.
- Treatment typically involves disease-specific approaches combined with supportive care including oxygen therapy and pulmonary rehabilitation.
- A multidisciplinary approach, integrating disease evaluation and patient follow-up, is necessary to propose the best treatment strategy for these rare diseases.
From the FDA Drug Label
The FDA drug label does not answer the question.
From the Research
Newly Identified Rare Pulmonary Diseases
- Idiopathic pulmonary fibrosis is a chronic progressive interstitial pneumonia with fibrosis, for which treatment is primarily supportive with oxygen therapy, pulmonary rehabilitation, and management of comorbid conditions 2
- Hypersensitivity pneumonitis, connective tissue disease associated-interstitial lung disease, sarcoidosis, and drug-induced interstitial lung disease are other types of interstitial lung diseases that have been identified 3
- Lymphangioleiomyomatosis, cystic fibrosis, and pulmonary alveolar proteinosis are also rare lung diseases that have been recognized 4
- Obesity hypoventilation syndrome is another rare pulmonary disease that is increasingly common, with symptoms that can include snoring, daytime somnolence, difficulty concentrating, fatigue, witnessed apneas, and morning headaches 2
Characteristics and Treatment
- Interstitial lung diseases are a complex group of conditions that cause inflammation and scarring of the lung interstitium, and a multidisciplinary approach to diagnosis is the gold standard 3
- Newer drugs such as pirfenidone and nintedanib can slow disease progression in idiopathic pulmonary fibrosis 2, 5
- A holistic approach to the care of patients with interstitial lung disease is paramount, as they often have a high symptom burden and considerable palliative care needs 3
- Patient education and awareness are essential for improving care and education on rare lung diseases, and initiatives such as the Rare Disease Day have been successful in increasing awareness for rare conditions 6