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[Waxing and waning pulmonary nodules and cavities].
Zhang, T; Luo, J M; Peng, M; Gao, L; Tian, X L; Xu, W B; Liu, H R; Shi, J H; Feng, Ruie.
Affiliation
  • Zhang T; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Luo JM; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Peng M; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Gao L; Department of Radiology, Peking University First Hospital, Beijing 100034, China.
  • Tian XL; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Xu WB; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Liu HR; Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Shi JH; Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Feng R; Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Jie He He Hu Xi Za Zhi ; 45(5): 475-479, 2022 May 12.
Article in Zh | MEDLINE | ID: mdl-35527463
We reported a case of vascular Ehlers-Danlos syndrome presenting with recurrent pulmonary hemorrhage. A 22-year-old man was admitted for intermittent hemoptysis and chest pain during the past 18 months. Computed tomography of chest showed bilateral nodules and cavities with halo sign. Inflammatory markers, including erythrocyte sedimentation rate, C reactive protein and interleukin 6, were within normal range. The microbiological and pathological examination of bronchoalveolar lavage fluid and CT-guided percutaneous lung biopsy failed to draw a diagnosis. The pulmonary lesions waxed and waned despite empirical antibacterial, antifungal, antimycobacterial, and anti-parasite treatment. Video-assisted thoracoscopic lung biopsy showed pulmonary hemorrhage, hematoma, ossification, and fibrous nodules, suggesting vascular Ehlers-Danlos syndrome. The molecular testing revealed a heterozygous missense variant in the COL3A1 gene which confirmed the diagnosis of vascular Ehlers-Danlos syndrome. The patient had no skin hyperextensibility or joint hypermobility. During 3-year follow-up, there were no evidence of other vascular or organ involvement except he had intermittent minor hemoptysis. Through this clinical pathological discussion, we aimed to remind pulmonologist to consider the possible diagnosis of vascular Ehlers-Danlos syndrome in young patients with recurrent hemoptysis and waxing and waning pulmonary nodules, cavities, or cysts on CT scan who has neither obvious systematic inflammation nor effective reaction on empirical antimicrobial therapy. Molecular testing should be carried out as soon as possible in a suspected patient to avoid unnecessary invasive examinations.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ehlers-Danlos Syndrome / Multiple Pulmonary Nodules Type of study: Diagnostic_studies / Etiology_studies / Qualitative_research Limits: Adult / Humans / Male Language: Zh Journal: Zhonghua Jie He He Hu Xi Za Zhi Year: 2022 Document type: Article Affiliation country: China Country of publication: China

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ehlers-Danlos Syndrome / Multiple Pulmonary Nodules Type of study: Diagnostic_studies / Etiology_studies / Qualitative_research Limits: Adult / Humans / Male Language: Zh Journal: Zhonghua Jie He He Hu Xi Za Zhi Year: 2022 Document type: Article Affiliation country: China Country of publication: China