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Pulmonary puzzle
COPD in the chromosomes
  1. Beatrice Cockbain1,2,
  2. Deborah Morris-Rosendahl3,
  3. Adele Corrigan4,
  4. Matthew David Hind5,6
  1. 1 Department of Infectious Diseases, Imperial College London, London, UK
  2. 2 Genitourinary Medicine and HIV, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK
  3. 3 Clinical Genetics and Genomics Laboratory, Royal Brompton Hospital, London, UK
  4. 4 Viapath Genetics Laboratories, Guy's and St Thomas' NHS Foundation Trust, London, UK
  5. 5 Respiratory Medicine, Royal Brompton Hospital, London, UK
  6. 6 National Heart and Lung Institute, Imperial College London, London, UK
  1. Correspondence to Dr Beatrice Cockbain, Department of Infectious Diseases, Imperial College London, London W2 1PG, UK; beatricecockbain{at}gmail.com

https://doi.org/10.1136/thoraxjnl-2022-218782

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    Introduction

    A 38-year-old man with community-acquired pneumonia requiring hospital admission was referred to respiratory clinic for further investigations. He had no history of smoking, recreational drug use or occupational exposures to substances including coal, cadmium or silica dusts.1 His parents reported that he had feeding difficulties in childhood and mild learning difficulties. There was no family history of note.

    On examination, he was noted to be short statured (1.65 m) with a raised body mass index (29.8 kg/m2). He had multiple missing teeth and upslanting palpebral fissures, with his face slightly dysmorphic in appearance. He had no clubbing or lymphadenopathy and chest auscultation was unremarkable.

    Serology for vasculitides and infection were unremarkable. Alpha-1 antitrypsin levels were normal (2.2 g/L). Pulmonary function testing suggested obstruction with significant gas trapping (predicted values in parentheses): FEV1 1.70 L (50%); FVC 3.51 L …

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    Footnotes

    • Contributors MDH suggested the initial idea which was then developed into a Pulmonary Puzzle piece by BC, MDH and DM-R. The original draft was written by BC which was then developed and edited by MDH, DM-R and AC.

    • Funding National Institute for Health Research (No direct funding. BC is in receipt of an NIHR Academic Clinical Fellowship).

    • Competing interests None declared.

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