Authors' recommendations: Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders comprised of 6 major subtypes. EDS type IV (EDS IV), which is also known as vascular EDS, is the most severe form of the condition and is estimated to account for 5% to 10% of all EDS cases. EDS IV is characterized by a significant risk for arterial and gastrointestinal rupture, as well as an increased risk of uterine rupture during pregnancy. Individuals with EDS IV may also have thin, transparent skin with easy and extensive bruising, and may exhibit characteristic facial features such as thin lips, thin nose, small chin, and prominent eyes. In addition, early-onset varicose veins, hypermobility of the small joints, acrogeria (aged appearance of the hands and feet), clubfeet, tendon or muscle rupture, spontaneous pneumothorax or hemothorax (presence of air [pneumothorax] or blood [hemothorax] between the lungs and chest wall), and gingival recession may be seen in EDS IV patients. Rupture of the spleen, liver, and heart are infrequent complications of the disease but are possible. EDS IV is inherited in an autosomal dominant manner (i.e., only 1 disease-causing variant in the causative gene is necessary to have the condition). The condition results from variants in the collagen type III, alpha 1 (COL3A1) gene, which is located on chromosome 2 at band q31 and encodes the alpha ()1 chain of procollagen type III. It is estimated that up to 98% of patients with a clinical diagnosis of EDS IV have a detectable variant in COL3A1, with the vast majority of these being intragenic variants identified by sequence analysis and very few being large genomic alterations involving the COL3A1 locus. Of patients with a detectable COL3A1 gene variant, approximately half have inherited the disease-causing variant from an affected parent and half have a de novo sequence variant with no family history of EDS. EDS IV may be diagnosed clinically using an established set of diagnostic criteria, which include both major and minor criteria for each of the various EDS subtypes. The presence of at least 2 major criteria (arterial, intestinal, or uterine rupture; extensive bruising; thin, translucent skin; or a characteristic facial appearance) is considered highly specific for EDS IV. The presence of multiple minor criteria in the absence of any major criteria is suggestive of EDS IV and may warrant further evaluation, as significant and potentially life-threatening complications may develop in those who do have the condition. Evidence of abnormal collagen type III in skin fibroblasts is also indicative of EDS IV and may facilitate the diagnosis of this condition. The medical management for patients with EDS IV is primarily preventative and symptomatic. This includes adaptations in lifestyle to minimize the risk of vascular or organ rupture, and the prompt treatment of complications with consideration of the underlying collagen defect.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15299

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

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Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc