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A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1Genetic Disorder With Intrathoracic Complications

Bjørg J. Abrahamsen, MD; Mari Ann Kulseth, PhD; Benedicte Paus, MD, PhD
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From the Department of Pulmonary Medicine (Dr Abrahamsen), Department of Medical Genetics (Drs Kulseth and Paus), and Institute of Clinical Medicine (Dr Paus), Oslo University Hospital, Oslo, Norway.

CORRESPONDENCE TO: Bjørg J. Abrahamsen, MD, Department of Pulmonary Medicine, Oslo University Hospital, Ullevål Hospital, Postboks 4956 Nydalen, NO-0424 Oslo, Norway; e-mail: bjjoab@ous-hf.no


Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


Chest. 2015;147(5):e166-e170. doi:10.1378/chest.13-3002
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A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient’s physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS). This atypical presentation of vascular EDS with intrathoracic complications shows that enhanced awareness is required and demonstrates the usefulness of the genetic analyses that are clinically available for several hereditary connective tissue disorders.

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