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Vascular Ehlers–Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage

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Abstract

Objectives

To describe CT features of lung involvement in patients with vascular Ehlers–Danlos syndrome (vEDS), a rare genetic condition caused by pathogenic variants within the COL3A1 gene, characterized by recurrent arterial, digestive, and pulmonary events.

Material and methods

All consecutive vEDS patients referred to the national tertiary referral center for vEDS, between 2004 and 2016, were included. Chest CT scans obtained during the initial vascular work-up were reviewed retrospectively by two chest radiologists for lung involvement. Five surgical samples underwent histologic examination.

Results

Among 136 enrolled patients (83 women, 53 men; mean age 37 years) with molecularly confirmed vEDS, 24 (17.6%) had a history of respiratory events: 17 with pneumothorax, 4 with hemothorax, and 3 with hemoptysis that required thoracic surgery in 11. CT scans detected lung parenchymal abnormalities in 78 (57.3%) patients: emphysema (mostly centrilobular and paraseptal) in 44 (32.3%), comparable for smokers and non-smokers; clusters of calcified small pulmonary nodules in 9 (6.6%); and cavitated nodules in 4 (2.9%). Histologic examination of surgical samples found arterial abnormalities, emphysema with alveolar ruptures in 3, accompanied by diffuse hemorrhage and increased hemosiderin resorption.

Conclusion

In vEDS patients, identification of lung parenchymal abnormalities is common on CT. The most frequently observed CT finding was emphysema suggesting alveolar wall rupture which might facilitate the diagnostic screening of the disease in asymptomatic carriers of a genetic COL3A1 gene mutation. The prognostic value and evolution of these parenchymal abnormalities remain to be evaluated.

Key Points

• Patients with vEDS can have lung parenchymal changes on top of or next to thoracal vascular abnormalities and that these changes can be present in asymptomatic cases.

• The presence of these parenchymal changes is associated with a slightly higher incidence of respiratory events (although not statistically significant).

• Identification of the described CT pattern by radiologists and chest physicians may facilitate diagnostic screening.

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Abbreviations

ADE:

Advanced destructive emphysema

BMI:

Body mass index

CLE:

Centrilobular emphysema

HRCT:

High-resolution computed-tomography

ins/del/dup:

Insertions/deletions/duplications

PACS:

Picture-archiving and communication system

PSE:

Paraseptal emphysema

vEDS:

Vascular Ehlers–Danlos syndrome

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Acknowledgements

Two of the authors of this publication are members of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) - Project ID: 769036.

Funding

The authors state that this work has not received any funding.

Author information

Authors and Affiliations

  1. Imagerie Cardiovasculaire et Thoracique (ICT), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France, ICT Cardiovascular and Thoracic Imaging Unit, LIB Biomedical Imaging Laboratory INSERM, CNRS, ICAN Institute of Cardiometabolism and Nutrition, Sorbonne Université, Pitié-Salpêtrière Hospital (AP-HP), 47-83 Boulevard de l’hôpital, 75651, Paris CEDEX 13, France

    Samia Boussouar

  2. Service de Pneumologie, Hôpital Saint Louis, APHP, Paris, France

    Amira Benattia

  3. Pôle Informatique Médicale et Santé Publique, Hôpital Avicenne, APHP, Paris, France

    Jean.-Baptiste Escudié

  4. Université Paris Descartes - Service d’Anatomie Pathologique- Hôpital Européen Georges Pompidou – AP-HP, Paris, France

    Laure Gibault

  5. Sorbonne université - Service d’anatomie pathologique- Hôpital Pitié-Salpêtrière-Ch. Foix– AP-HP, Paris, France

    Frédérique Capron

  6. Université de Paris Centre de Référence des Maladies Vasculaires Rares et service de génétique, HEGP, AP-HP et Inserm U 970, Paris, France

    Anne Legrand, Xavier Jeunemaitre & Michael Frank

  7. Université Paris 13, Sorbonne Paris Cité, EA2363 ‘hypoxie et poumon’, Paris- Service de Radiologie- Hôpital Avicenne- AP-HP-, Bobigny, France

    Pierre-Yves Brillet

  8. Université de Paris Centre de Référence des Maladies Vasculaires Rares et service de génétique, VASCERN MSA European Reference Centre, HEGP, AP-HP et Inserm U 970, Paris, France

    Xavier Jeunemaitre, Elie Mousseaux & Michael Frank

  9. Département de Recherche Clinique et Innovation, Hôpital Foch, Suresnes, France

    Philippe A. Grenier

  10. Université de Paris, Service d’Imagerie Médicale, Hôpital Européen Georges-Pompidou, APHP, Paris Centre de Recherche Cardiovasculaire (PARCC), Paris, France

    Elie Mousseaux

  11. Université de Paris - Service de Pneumologie et Soins Intensifs, Centre de Compétences Maladies Rares Pulmonaires - Hôpital Européen Georges Pompidou – AP-HP – INSERM UMRS 1140, Paris, France

    Olivier Sanchez

Authors
  1. Samia Boussouar
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  2. Amira Benattia
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  3. Jean.-Baptiste Escudié
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  4. Laure Gibault
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  6. Anne Legrand
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  7. Pierre-Yves Brillet
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  8. Xavier Jeunemaitre
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  11. Michael Frank
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  12. Olivier Sanchez
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Corresponding author

Correspondence to Samia Boussouar.

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Conflict of interest

The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article.

Statistics and biometry

Two of the authors have significant statistical expertise.

Informed consent

Written informed consent was waived by the Institutional Review Board.

Ethical approval

Institutional Review Board approval was obtained.

This study was formally approved by the comité de protection des personnes Ile de France II (IRB registration#: 00001072).

Methodology

• retrospective

• observational

• multicenter study

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Boussouar, S., Benattia, A., Escudié, JB. et al. Vascular Ehlers–Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. Eur Radiol 31, 6275–6285 (2021). https://doi.org/10.1007/s00330-021-07710-6

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  • DOI: https://doi.org/10.1007/s00330-021-07710-6

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