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

American Journal of Medical Genetics. Part a
Sherene ShalhubDianna M Milewicz

Abstract

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 diag...Continue Reading

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Citations

Apr 30, 2020·The New England Journal of Medicine·Samantha Baah, Steve N Georas
Jul 14, 2020·Molecular Syndromology·Ömer Aydıner, Veysel S Hançer
Apr 30, 2020·The New England Journal of Medicine·Simon G A BrownEmma L Ball
Sep 18, 2020·Current Opinion in Cardiology·Ehsan Benrashid, John Westley Ohman
Apr 30, 2020·The New England Journal of Medicine·Enid R Neptune, Hal Dietz
Oct 1, 2021·Circulation. Genomic and Precision Medicine·Ahsun RiazLisa D Wilsbacher
Nov 24, 2021·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rebecca BascomClair A Francomano
Jul 30, 2019·Journal of Vascular Surgery·Sherene ShalhubKaren Woo

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