ABCA3-related interstitial lung disease in a young woman

A 25-year-old non-smoking caucasian woman, with no family history of interstitial lung disease (ILD) or consanguinity, presented with a 6-month history of progressive exertional dyspnoea, chest pain and episodes of mild haemoptysis. Her medical history was unremarkable. Physical examination revealed bibasilar crackles and digital clubbing. Blood tests showed neutrophilic leucocytosis (WBC 12 040/mm³ with neutrophils 9860/mm³) and CRP 3.8 mg/L. An autoimmunity panel and specific IgG tests for mould and avian antigens were all negative. Spirometry indicated a restrictive ventilatory defect with severe impairment of DLCO (FVC 57% predicted and DLCO 35% predicted). A high resolution CT revealed ground-glass attenuation in the peripheral regions of both lungs, with small cysts in the anterior segments of both upper lobes (figure 1). A bronchoalveolar lavage performed in the lingula showed 99% macrophages and 1% lymphocytes, and microbiology cultures for bacterial, fungal and viral pathogens were negative. After a multidisciplinary discussion, a transbronchial …