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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.

Author information

1
Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA.
2
Pulmonary and Critical Care Medicine, The Johns Hopkins Hospital, Baltimore, Maryland.
3
Department of Surgery, Stanford University, Stanford, California.
4
Department of surgery, Centro Clinico Quirurgico Hospital Del Dia Norte, Guayaquil, Ecuador.
5
Colorado Springs VA Medical Clinic, Colorado Springs, Colorado.
6
Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.

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 diagnosis that includes vEDS. This should lead to an investigation of other vEDS features and subsequent genetic testing if vEDS features are present.

KEYWORDS:

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

PMID:
30793832
DOI:
10.1002/ajmg.a.61094

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