Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.

BACKGROUND

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting collagen and extracellular matrix proteins, which can cause skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Complications include joint dislocation, chronic pain, fatigue, functional gastrointestinal disorders, mast cell hyperactivity, orthostatic intolerance, anxiety disorders, and pelvic and bladder dysfunction, among others. This article discusses the orthopedic concerns and complications, diagnosis, genetic testing, and multidisciplinary approach to management in EDS patients.

METHODS

A comprehensive review of the literature in PubMed was performed, focusing on EDS and its orthopedic implications, diagnosis, genetic testing, and management. Search terms included EDS with/without diagnosis, orthopedics, and management. Peer-reviewed journals were prioritized. Each source's credibility, findings, and level of evidence were organized by theme to synthesize the information. Literature within 5 years was prioritized. However, given the little information available about EDS, this was expanded to include landmark and highly relevant sources.

RESULTS

EDS patients often have weak spinal muscles, deformities, and reduced column support leading to joint instability, recurrent dislocations, and chronic pain. Diagnosis is primarily clinical, but identifying the type of EDS by the gene encoding the defect in collagen or other proteins is essential to guide management. Physical therapy, pain management, skin care, and nutrition form the cornerstone of EDS management. Orthopedic surgery to address orthopedic concerns such as joint stability is controversial due to the potential for complications and should be considered only after nonoperative medical treatments have failed.

CONCLUSION

EDS presents unique considerations that must be addressed, especially when orthopedic intervention is being considered. Due to the unique symptom presentation, goals and care plans should be individualized. The orthopedic nurse plays a vital role throughout all phases of care and should be aware of the special considerations with patients with EDS. The focus of treatment should be on patient safety, symptom management, and the prevention of future injuries.