Boussouar Samia, Benattia Amira, Escudié Jean-Baptiste, Gibault Laure, Capron Frédérique, Legrand Anne, Brillet Pierre-Yves, Jeunemaitre Xavier, Grenier Philippe A, Mousseaux Elie, Frank Michael, Sanchez Olivier
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.
Service de Pneumologie, Hôpital Saint Louis, APHP, Paris, France.
Eur Radiol. 2021 Aug;31(8):6275-6285. doi: 10.1007/s00330-021-07710-6. Epub 2021 Mar 2.
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.
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.
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.
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.
• 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.
描述血管型埃勒斯-当洛综合征（vEDS）患者肺部受累的CT特征。vEDS是一种罕见的遗传性疾病，由COL3A1基因的致病变异引起，其特征为反复发生动脉、消化和肺部事件。
纳入2004年至2016年间转诊至国家vEDS三级转诊中心的所有连续性vEDS患者。由两名胸部放射科医生对初始血管检查期间获得的胸部CT扫描进行回顾，以评估肺部受累情况。对五个手术样本进行组织学检查。
在136例经分子确诊的vEDS患者中（83例女性，53例男性；平均年龄37岁），24例（17.6%）有呼吸事件史：17例气胸，4例血胸，3例咯血，其中11例需要胸外科手术。CT扫描在78例（57.3%）患者中检测到肺实质异常：44例（32.3%）为肺气肿（主要为小叶中心型和间隔旁型），吸烟者和非吸烟者情况相似；9例（6.6%）为成簇的钙化小肺结节；4例（2.9%）为空洞性结节。手术样本的组织学检查发现动脉异常，3例有伴有弥漫性出血和含铁血黄素吸收增加的肺泡破裂性肺气肿。
在vEDS患者中，CT上常见肺实质异常。最常观察到的CT表现是肺气肿，提示肺泡壁破裂，这可能有助于对COL3A1基因突变的无症状携带者进行疾病的诊断性筛查。这些实质异常的预后价值和演变仍有待评估。
• vEDS患者除了胸部血管异常之外或其附近可出现肺实质改变，且这些改变可出现在无症状病例中。• 这些实质改变的存在与呼吸事件的发生率略高相关（尽管无统计学意义）。• 放射科医生和胸科医生识别所描述的CT模式可能有助于诊断性筛查。
