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Interstitial lung disease
ABCA3-related interstitial lung disease in a young woman
  1. Simone Petrarulo1,
  2. Claudia Ravaglia1,2,
  3. Maria Giulia Disanto3,
  4. Sara Piciucchi4,
  5. Venerino Poletti1,2,5
  1. 1 Department of Medical Specialities, Pulmonology Unit, GB Morgagni—L. Pierantoni Hospital, Forlì, Italy
  2. 2 Department of Medical and Surgical Sciences (DIMEC), University of Bologna/Forlì Campus, Forlì, Italy
  3. 3 Unit of Surgical Pathology, Santa Chiara Hospital, APSS, Trento, Italy
  4. 4 Department of Radiology, GB Morgagni - L.Pierantoni Hospital, Forli, Italy
  5. 5 Department of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark
  1. Correspondence to Prof Venerino Poletti; venerino.poletti{at}gmail.com

https://doi.org/10.1136/thorax-2024-222120

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    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 …

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    Footnotes

    • Contributors SPe, CR, MGD and SPi: conception of the manuscript, literature search and drafting of the manuscript. VP: critical review of the manuscript. All the authors approved the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.