Abstract Introduction Cystic lung disease is an often mis-diagnosed entity. One such consideration is neurofibromatosis 1 (NF1), which is an autosomal dominant disorder resulting in multiple tumors and abnormalities that form within various tissues of the body. It results from variations in the tumor suppressor gene NF1 on chromosome 17, which can be familial or de novo. Typically recognizable from its skin and soft tissue findings like neurofibromas and café-au-lait spots, pulmonary manifestations can be noted in as many as 10-20 percent of adult patients. Recognition of pulmonary manifestations can be difficult given the overlap of symptoms as well as CT scan commonalities with other disease processes, including COPD, cavitary lesions and bronchiectasis. Here, we present the case of a patient with NF1 with substantial pulmonary findings. This case highlights the importance of recognition of cystic lung diseases and its differentiation from other processes. Case Description A 64 year-old female with past medical history significant for NF1 complicated by neurosarcoma of the right leg and COPD presented after seeking care for fatigue and low ambulatory oxygen readings necessitating home oxygen. Patient was without PFTs and was previously diagnosed with smoking-related COPD based on radiographic imaging. On both physical exam as well as CT, patient had classic skin lesions associated with NF1. Also on CT, patient was noted to have pulmonary cysts and interstitial changes concerning for cystic lung disease. In contrast, emphysema tends to have less well-defined cysts, with more centrilobular location, and less uniformity. Given the characteristic radiographic findings as well as the patient’s classic skin lesions, diagnostic biopsy was not pursued. PFTs were noted to be normal aside from reduced DLCO. Discussion This case highlights the importance of recognition of cystic lung diseases. Often times, patients are misdiagnosed with mimickers of the disease such as COPD. Though selumetinib was approved for treatment of tumor shrinkage in NF1, there is currently no targeted treatment for neurofibromatosis pulmonary disease. Earlier recognition, however, can lead to better management as well as possible prevention of the known complications such as hypoxic respiratory failure as noted in this patient. Other serious complications include spontaneous pneumothorax or pulmonary hypertension, for which early recognition and knowledge is also important for treatment. In addition, earlier smoking cessation has been thought to slow the disease processes itself. Recognition and differentiation of cystic lung disease is key for best management. This abstract is funded by: None
Stokan et al. (Fri,) studied this question.