Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Overview of the management of Ehlers-Danlos syndromes

Susan P Pauker, MD, FACMG
Joan Stoler, MD
Section Editor
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Paul L Romain, MD


Ehlers-Danlos syndrome (EDS) is the term used for a group of relatively rare genetic disorders of connective tissue that are characterized by skin hyperextensibility, joint hypermobility, and/or tissue fragility. The management of patients with EDS depends largely upon common principles and practices, with an emphasis on patient education for the prevention and early recognition of injuries and complications. Management of EDS also includes monitoring and additional interventions tailored to the particular manifestations or complications that may occur with each form of EDS [1].

There are no medical treatments that can reverse or “cure” EDS, and most other interventions used in these patients have not been evaluated in randomized trials. (See 'Common management approaches' below and 'Management by EDS type' below.)

An overview of the approach to the management, monitoring, and prognosis of patients with EDS will be presented here. The information provided in this topic review is intended to allow primary care providers and other non-EDS specialists to educate and support patients with EDS and to coordinate care and referrals to appropriate specialists, depending upon the type and severity of EDS. Patients with EDS should be managed in collaboration with an expert in clinical genetics. (See 'When to refer' below.)

The pathogenesis, clinical manifestations, diagnosis, and differential diagnosis of the major forms of EDS, and a detailed discussion of the management of the joint hypermobility syndrome, are presented separately. (See "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes" and "Joint hypermobility syndrome", section on 'Treatment'.)


Some major issues are common to several or most forms of Ehlers-Danlos syndrome (EDS); the preventive management strategies and interventions for such issues are generally the same regardless of the EDS type, and are discussed in this section. The particular approaches specific to each type of EDS are described below. (See 'Management by EDS type' below.)


Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Sep 2016. | This topic last updated: Jul 8, 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
  1. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22:165.
  2. Baeza-Velasco C, Gély-Nargeot MC, Bulbena Vilarrasa A, Bravo JF. Joint hypermobility syndrome: problems that require psychological intervention. Rheumatol Int 2011; 31:1131.
  3. Bathen T, Hångmann AB, Hoff M, et al. Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet A 2013; 161A:3005.
  4. Shirley ED, Demaio M, Bodurtha J. Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health 2012; 4:394.
  5. Rombaut L, Malfait F, De Wandele I, et al. Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. Arch Phys Med Rehabil 2011; 92:1106.
  6. Arthur K, Caldwell K, Forehand S, Davis K. Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study. Disabil Rehabil 2016; 38:1063.
  7. Guilleminault C, Primeau M, Chiu HY, et al. Sleep-disordered breathing in Ehlers-Danlos syndrome: a genetic model of OSA. Chest 2013; 144:1503.
  8. Elsas LJ 2nd, Miller RL, Pinnell SR. Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. J Pediatr 1978; 92:378.
  9. Ehlers-Danlos Syndrome, Classic Type. Malfait F, Wenstrup R, De Paepe A. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2007 May 29 [updated 2011 Aug 18]. http://www.ncbi.nlm.nih.gov/pubmed/20301422 (Accessed on May 18, 2013).
  10. Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. http://www.ncbi.nlm.nih.gov/books/NBK1279/?report=printable (Accessed on May 18, 2013).
  11. Lum YW, Brooke BS, Black JH 3rd. Contemporary management of vascular Ehlers-Danlos syndrome. Curr Opin Cardiol 2011; 26:494.
  12. Atzinger CL, Meyer RA, Khoury PR, et al. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr 2011; 158:826.
  13. Pepin MG, Byers PH. Ehlers-Danlos Syndrome Type IV. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. http://www.ncbi.nlm.nih.gov/books/NBK1494/?report=printable (Accessed on May 18, 2013).
  14. Karaa A, Stoler JM. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr 2013; 2013:764659.
  15. LaMont LE, Doyle SM. Orthopedic aspects of collagen disorders. Curr Opin Pediatr 2014; 26:79.
  16. Wiesmann T, Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis 2014; 9:109.
  17. Carbone L, Tylavsky FA, Bush AJ, et al. Bone density in Ehlers-Danlos syndrome. Osteoporos Int 2000; 11:388.
  18. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342:673.
  19. Lum YW, Brooke BS, Arnaoutakis GJ, et al. Endovascular procedures in patients with Ehlers-Danlos syndrome: a review of clinical outcomes and iatrogenic complications. Ann Vasc Surg 2012; 26:25.
  20. Chu LC, Johnson PT, Dietz HC, Fishman EK. CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. AJR Am J Roentgenol 2014; 202:1120.
  21. Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010; 376:1476.
  22. Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers-Danlos syndrome: a systematic review. Ann Surg 2013; 258:257.
  23. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. Yeowell HN, Steinmann B. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013 February 2, 2000; Last Update: January 24, 2013. http://www.ncbi.nlm.nih.gov/books/NBK1462/?report=printable (Accessed on June 13, 2013).
  24. Stoler JM, Bromley B, Castro MA, et al. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Am J Med Genet 2001; 101:174.
  25. Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007; 2:32.
  26. Chetty SP, Shaffer BL, Norton ME. Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems. Obstet Gynecol Surv 2011; 66:699.
  27. Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001; 345:1167.