Abstract Introduction Cystic lung disease (CLD) describes a heterogeneous group of underlying pathologies that share common radiographic features of multiple thin walled, air-filled cysts in the lung parenchyma. A small number of underlying diseases explains the majority of CLD cases; however, diagnostic challenges are introduced when the causative pathology does not align with the most prevalent diagnoses. Here we describe a challenging case of CLD and recurrent pneumothorax (PTX) in a young adult male secondary to vascular Ehlers-Danlos syndrome (vEDS). Case Presentation An otherwise healthy 24-year-old male presented to the emergency department for acute onset hemoptysis. Chest CT at the time was significant for early cavitary lung lesions which was presumed infectious given Streptococcus anginosis and H. influenzae demonstrated on sputum culture. He was discharged with antibiotics and close follow up, however he presented to the hospital again several months later with a repeat CT chest demonstrating new small pneumothorax, cystic changes, and subpleural nodules. He was discharged again with pulmonary follow up, with an outpatient chest radiograph demonstrating persistent left PTX prompting direct hospital admission. He subsequently underwent multiple wedge resection, bullectomy, biopsy, and pleurodesis and was later discharged. Tissue biopsy demonstrated hemosiderin deposition consistent with prior ruptured bullae, occasional emphysematous changes, and otherwise normal lung parenchyma. Over the next six months the patient continued to demonstrate disease progression on surveillance imaging including R. sided PTX and bleb development and underwent right sided wedge resection, bullectomy, and biopsy which again was nondiagnostic and significant only for hemorrhage and nodular fibrotic scarring. During this time, he additionally underwent extensive infectious and autoimmune workups which were continually unrevealing. Finally, he completed a 92-gene connective tissue panel which demonstrated a pathologic variant in the COL3A1 gene known to be associated with vEDS. Discussion Here we describe a young adult male with CLD and recurrent PTX secondary to vEDS. There is a growing body of literature regarding pulmonary involvement in vEDS, although only a small handful of cases exist where CLD is the primary finding. The challenge associated with this atypical presentation resulted in a prolonged workup which included multiple hospital admissions and procedural interventions. This demonstrates the need to expand the differential diagnosis of CLD in patients who do not have evidence of classical underlying diseases. This abstract is funded by: None
Chambers et al. (Fri,) studied this question.