Table 5.

Treatment of Manifestations in Individuals with EFEMP2-Related Cutis Laxa

Manifestation/
Concern
Treatment
Arterial dilatation/
aneurysm
  • Based on experience in related disorders (e.g., Marfan syndrome), treatment w/beta-blockers or angiotensin receptor blockers can be considered when aortic root dilatation is present.
  • Surgical repair of large aortic aneurysms (at risk for dissection) should be considered.
  • Aortic aneurysm replacement has been performed successfully.
Pulmonary emphysema Treated symptomatically
Micrognathia Tracheostomy may be necessary when retrognathia leads to upper airway obstruction.
Joint hypermobility Muscle-strengthening PT
Hernia Routine surgical repair

PT = physical therapy

From: EFEMP2-Related Cutis Laxa

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.