Overview of the management of Ehlers-Danlos syndromes
- Susan P Pauker, MD, FACMG
Susan P Pauker, MD, FACMG
- Associate Professor
- Harvard Medical School
- Chief, Medical Genetics
- Harvard Vanguard Medical Associates
- Joan Stoler, MD
Joan Stoler, MD
- Assistant Professor of Pediatrics
- Harvard Medical School
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 .
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'.)
COMMON MANAGEMENT APPROACHES
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.)
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- COMMON MANAGEMENT APPROACHES
- When to refer
- Patient education
- Psychosocial support
- Joint protection and function
- Musculoskeletal pain
- Skin fragility, wound management, and easy bruising
- Worrisome symptoms
- Scoliosis/spinal disease
- Anesthetic and perioperative management
- MANAGEMENT BY EDS TYPE
- Classic EDS
- Hypermobility EDS
- Vascular EDS
- Kyphoscoliosis EDS
- Other rare forms of EDS
- REPRODUCTIVE OPTIONS AND PREGNANCY
- Counseling and genetic testing
- Pregnancy, delivery, and postpartum care
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS