What is Ehlers-Danlos (EDS) syndrome?

From the Guidelines

Patients with Ehlers-Danlos syndrome, particularly the vascular form, should be managed with a focus on preventing life-threatening vascular complications, such as arterial ruptures and dissections, through careful monitoring and lifestyle modifications. The management of Ehlers-Danlos syndrome (EDS) is crucial to improve quality of life and prevent complications. According to the 2024 ESC guidelines for the management of peripheral arterial and aortic diseases 1, vascular Ehlers-Danlos syndrome is a rare autosomal dominant disease caused by pathogenic variants in the COL3A1 gene, which encodes the pro-alpha1 chains of type III procollagen.

Key Considerations

• The condition is characterized by easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines 1.
• The most common complications involve medium-sized arteries: dissections, aneurysms, arterial ruptures, and arteriovenous fistulas 1.
• Life expectancy is reduced to an average of 51 years, making early identification and thorough family inquiry particularly crucial 1.
• Noninvasive vascular imaging is preferred as fatal complications have been associated with invasive imaging in these patients 1.

Management

• Cardiovascular monitoring is necessary to detect potential vascular complications, and genetic counseling is recommended for family planning.
• Management focuses on symptom control rather than cure, including physical therapy to strengthen muscles around unstable joints, pain management with NSAIDs or other analgesics, and lifestyle modifications to prevent injury.
• Some patients may benefit from braces or mobility aids to reduce joint strain.
• Surgical repair of ruptured arteries can be life-saving, but tissue fragility and poor wound healing may complicate the procedure 1.

From the Research

Ehlers-Danlos Syndrome Overview

• Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue, characterized by mutations in the genes involved in the structure and/or biosynthesis of collagen 2.
• The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility 2.
• There are 13 recognized EDS subtypes, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders 2.

Treatment Options

• The proposed treatments for the various musculoskeletal pain syndromes in EDS have had variable success, and it is imperative to better define and evaluate the current treatment modalities 3.
• A study found that occupational therapy and bracing were the most effective options, with 70% of patients reporting improvement 3.
• Complimentary/alternative treatments were the most common treatments used, with 88 patients using them 3.
• Neuropathic modulators were the least well tolerated, with 47% of patients reporting adverse effects 3.

Physical Therapy Interventions

• Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS) 4.
• A scoping review found that therapeutic exercise and motor function training are efficacious methods to treat individuals with G-HSD and hEDS 4.
• There is also weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training 4.
• A systematic review found that physiotherapy techniques can improve pain, proprioception, and quality of life in patients with hEDS 5.

Management and Diagnosis

• Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients 2.
• Management consists of a care team responsible for surveillance of major and organ-specific complications, integrated physical medicine and rehabilitation 6.
• No specific medical or genetic therapies are available for any type of EDS 6.