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Am J Med Genet A. 2019 May;179(5):797-802. doi: 10.1002/ajmg.a.61094. Epub 2019 Feb 22.

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

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Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA.
Pulmonary and Critical Care Medicine, The Johns Hopkins Hospital, Baltimore, Maryland.
Department of Surgery, Stanford University, Stanford, California.
Department of surgery, Centro Clinico Quirurgico Hospital Del Dia Norte, Guayaquil, Ecuador.
Colorado Springs VA Medical Clinic, Colorado Springs, Colorado.
Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.


Vascular Ehlers-Danlos syndrome (vEDS) is a connective tissue disorder due to defective type III collagen production and is associated with arterial rupture, spontaneous intestinal perforation, and gravid uterine rupture. Spontaneous pneumothorax and/or hemothorax (P/HTX) also occurs in vEDS patients. The temporal relation of pulmonary manifestations to arterial and intestinal complications in vEDS has not been well described. This was investigated in a multi-institutional retrospective case series of vEDS patients with confirmatory testing for COL3A1 mutation between 2000 and 2012. Data abstracted included demographics, family histories, presentation, and management of associated complications. Ninety-six cases (39% males, mean age 38.6 ± 15.5 years, range 8-79) had confirmatory testing for vEDS. P/HTX was documented in 17 (17.7%) cases. Most P/HTX preceded the diagnosis of vEDS (81%). Diagnosis of vEDS was made after arterial or intestinal complications at a mean of 7 years (range 0-26) post the initial P/HTX. In conclusion, spontaneous P/HTX is an early manifestation of vEDS frequently preceding an arterial complication or intestinal perforation. Thus, a spontaneous P/HTX in a young patient should trigger a differential diagnosis that includes vEDS. This should lead to an investigation of other vEDS features and subsequent genetic testing if vEDS features are present.


Ehlers-Danlos syndrome type IV; spontaneous hemothorax; spontaneous pneumothorax; type III collagen; vascular Ehlers-Danlos syndrome


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