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Investigating cystic lung disease: a respiratory detective approach

Samantha Ennis, Elizabeth J. Silverstone, Deborah H. Yates
Breathe 2020 16: 200041; DOI: 10.1183/20734735.0041-2020
Samantha Ennis
1Dept of Thoracic Medicine, St Vincent's Hospital, Darlinghurst, Australia
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Elizabeth J. Silverstone
2Dept of Medical Imaging, St Vincent's Hospital, Darlinghurst, Australia
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Deborah H. Yates
1Dept of Thoracic Medicine, St Vincent's Hospital, Darlinghurst, Australia
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  • ORCID record for Deborah H. Yates
  • For correspondence: d.yates@unsw.edu.au
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Figures

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  • Figure  1
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    Figure  1

    a) HRCT image of the lungs in sporadic LAM, demonstrating bilateral rounded cysts, and b) automated CT software image.

  • Figure  2
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    Figure  2

    Typical HRCT appearances of the lungs in BHD.

  • Figure  3
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    Figure  3

    Lung cysts and mid and upper lobe infiltrates in biopsy-proven hypersensitivity pneumonitis, with accompanying fibrotic change. The sensitising agent was the pet parrot.

  • Figure  4
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    Figure  4

    Thick-walled cysts in respiratory papillomatosis.

Tables

  • Figures
  • Table  1

    Causes of cystic lung disease

    Associated with genetic mutationsLymphangioleiomyomatosis (tuberous sclerosis-associated and sporadic)
    Birt–Hogg–Dubé syndrome and other folliculin deficiencies
    Proteus syndrome, neurofibromatosis, Ehlers–Danlos syndrome, Marfan syndrome
    NeoplasticPulmonary Langerhans cell histiocytosis, other histiocytoses (e.g. Erdheim–Chester disease)
    Metastatic sarcoma, cavitating adenocarcinomas
    Benign metastasising leiomyoma
    Associated with lymphoproliferative disordersLymphocytic interstitial pneumonia
    Follicular bronchiolitis
    Amyloidosis
    Light chain deposition disease
    IgG4-related disease
    Associated with infectionsPneumocystis jirovecii
    Staphylococcal pneumonia
    Respiratory papillomatosis
    Parasitic and fungal diseases (e.g. coccidiocomycosis, paragonimiasis)
    Occupational and environmentalHypersensitivity pneumonitis (e.g. farmer's lung, bird fanciers' lung)
    Hard metal lung disease (tungsten carbide sensitisation)
    Chronic beryllium disease (beryllium sensitisation)
    Respiratory bronchiolitis associated interstitial lung disease (smoking/? vaping)
    Hut lung (biomass fuels)
    Associated with interstitial lung diseaseHypersensitivity pneumonitis
    Honeycombing in idiopathic pulmonary fibrosis
    Honeycombing in asbestosis and other pneumoconioses
    Conditions that may mimic cystic lung diseaseEmphysema
    α1-antitrypsin deficiency
    Bronchiectasis
    Sarcoidosis
    Cavities in rheumatoid arthritis, Crohn's disease, coal workers' pneumoconiosis (Caplan's syndrome)
  • Table  2

    Characteristics of different diffuse cystic lung diseases

    LAMPLCHBHDLymphocytic interstitial pneumoniaAmyloidosisLight chain deposition diseaseInfection
    Pathogenesis
    • Proliferation of abnormal smooth-like muscle cells (LAM cells)

      Sporadic or autosomal dominant (TSC-LAM)

    • Infiltration and destruction by CD1a+ Langerhans-like cells

    • Autosomal dominant (FLCN gene)

    • Diffuse reactive pulmonary lymphoid hyperplasia

      Idiopathic or associated with an underlying immunological condition

    • Misfolding protein and its extracellular deposition as fibrils

    • Accumulation of monoclonal light chain secreted by a clone of plasma cells

    • PJP: fungal infection

      RRP: HPV-6 and -11

    Clinical Hx
    • Occurs almost exclusively in women

    • Young smokers

      Both sexes

    • Relative with BHD or FHx of pneumothoraces, skin lesions and renal cancer

    • Hx of autoimmune conditions or immunological conditions, e.g. Sjögren syndrome, HIV

    • Presents in the sixth decade of life

      Hx of Sjögren syndrome, lymphoproliferative disease or lymphoma

    • Lymphoproliferative disorders

    • PJP: immunocompromised host

      RRP: upper airway symptoms (hoarse voice, wheeze, stridor)

    Distribution of cysts
    • Diffuse

      No lobar predominance

    • Upper and middle lobes

      Sparing costophrenic angles

    • Basal predominance

      Subpleural

      Perivascular

    • Diffuse (often subpleural and perivascular)

    • Diffuse

    • Diffuse

    • PJP: upper lobe predominance

      RRP: predominately lower lobes

    Shape
    • Round

    • Irregular

    • Round, elliptiform, lentiform

    • Round

    • Round

    • Round

    • Variable

    Other findings on HRCT
    • Chylous pleural effusions

    • Symmetric reticulo-micronodular infiltration ±cavities

    • Nil

    • Ground-glass infiltrates, poorly defined centrilobular nodules, interlobular septal thickening

    • Multiple nodules abutting cyst walls

    • Multiple nodules

    • PJP: bilateral ground glass (apical predominance, peripheral sparing), consolidation, linear reticular opacities, nodules, parenchymal cavities

      RRP: solid nodules, tracheal wall irregularities, bronchiectasis

    Extrapulmonary manifestations
    • Renal angiomyolipomas

      Chylous effusions (pleural or ascites)

      Lymphangioleiomyomas

      TSC: skin lesions, seizures, hamartomatous lesions in various organs

    • Adult PLCH is generally isolated

      Rarely: bones (lytic lesions), pituitary (diabetes insipidus), skin rash

    • Skin fibrofolliculomas

      Renal tumours

    • Autoimmune diseases and associated symptoms including sicca symptoms and Raynaud's

    • Renal, cardiac, gastrointestinal, neurological and skin manifestations

    • Renal failure

      Lymphoproliferative disorders

    • PJP: immunosuppression, constitutional features

      RRP: upper airway involvement

    Supporting investigations
    • VEGF-D >800 pg·mL−1

      Tbbx or VATS biopsy

    • BRAF mutation testing

      Tbbx or VATS biopsy

    • Genetic testing for FLCN mutations

      Imaging for renal tumours

      Skin biopsy

    • Autoimmune panel

      HIV testing

      VATS biopsy

    • Presence of monoclonal protein

      VATS biopsy

    • Investigation for lymphoproliferative disorder

      Renal biopsy

      VATS biopsy

    • HIV status, CD4+ cell count

      PCR of induced sputum, BAL fluid or nasopharyngeal aspirates

    Treatment
    • mTOR inhibition: everolimus, sirolimus

    • Smoking cessation

    • Nil

    • Corticosteroids and immunosuppression

    • Treatment of underlying disease

    • Treatment of underlying disease

    • PJP: trimethoprim-sulfamethoxazole

      RRP: cidofovir

    PLCH: pulmonary Langerhans cell histiocytosis; BHD: Birt–Hogg–Dubé syndrome; Hx: history; FLCN: folliculin; PJP: Pneumocystis jirovecii pneumonia; RRP: recurrent respiratory papillomatosis; HPV: human papilloma virus; FHx: family history; VEGF: vascular endothelial growth factor; Tbbx: transbronchial biopsy; VATS: video-assisted thoracoscopic surgery; BAL: bronchoalveolar lavage; mTOR: mammalian target of rapamycin.

    • Centrilobular emphysemaCentrilobular lucencies that lack distinct walls
      Predominately upper lobes after tobacco smoking
      Cystic bronchiectasisAssociated with bronchial dilation
      Connected to tubular airways
      CavityGas-filled space
      Wall thickness >4 mm
      Develops in an area of pulmonary consolidation, mass or nodule
      BullaAn airspace (size >1 cm) with a round focal lucency, bounded by a thin wall (<1 mm)
      BlebSmall sized (<1 cm), gas-containing space within the visceral pleura or in the subpleural area
      PneumatoceleA thin-walled, gas-filled space in the lung, caused by infection, trauma, aspiration of hydrocarbon fluid
      HoneycombingSubpleural, multiple cystic cluster, typically 3–10 mm in diameter with well-defined walls
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    Investigating cystic lung disease: a respiratory detective approach
    Samantha Ennis, Elizabeth J. Silverstone, Deborah H. Yates
    Breathe Jun 2020, 16 (2) 200041; DOI: 10.1183/20734735.0041-2020

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    Investigating cystic lung disease: a respiratory detective approach
    Samantha Ennis, Elizabeth J. Silverstone, Deborah H. Yates
    Breathe Jun 2020, 16 (2) 200041; DOI: 10.1183/20734735.0041-2020
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    • Article
      • Abstract
      • Abstract
      • What is cystic lung disease?
      • What is a cyst?
      • Suspecting and making a diagnosis of cystic lung diseases
      • Most likely causes of multiple cystic lung diseases
      • Conclusions
      • Footnotes
      • References
    • Figures & Data
    • Info & Metrics
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    • Interstitial and orphan lung disease
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