Ehlers-Danlos syndromes (EDS) are a group of genetic disorders that affect connective tissues. Connective tissues are structures in the body that provide support to the organs, such as cartilage, fat and bones. When a patient has hypermobile Ehlers-Danlos syndrome, they may experience stretchy and loose skin, flexible joints, musculoskeletal pain and may bruise easily. While there is no definitive cure for hypermobile EDS, treatment can help reduce pain, improve function and prevent serious complications in the future.
Diagnosing hypermobile Ehlers-Danlos syndromes (EDS)
According to the Ehlers-Danlos Society, there are 13 classifications of EDS, including hypermobile Ehlers-Danlos syndrome, which is the most common. While all subtypes of EDS affect the connective tissues, each subtype has varying symptoms and means for diagnosis. Vascular Ehlers-Danlos syndrome, for example, can affect the blood vessels, whereas periodontal Ehlers-Danlos syndrome may affect the gums and the tissue in the mouth.
There is no definitive, clinical test doctors can perform to diagnose hypermobile Ehler-Danlos syndrome. Your doctor will review your child’s medical history and family medical history for musculoskeletal issues and disorders. Your provider will also take note of your child’s symptoms, and evaluate their joint flexibility and the appearance of their skin.
Causes of EDS
Like other Ehlers-Danlos syndromes, hypermobile EDS is genetic. The specific gene that causes hypermobile EDS is currently unknown. According to the NIH, hypermobility can be linked to a defect in collagen, a protein found in the connective tissue that aids in tissue repair and immune response.
Symptoms of EDS
Symptoms of Ehlers-Danlos syndromes can vary based on the disorder subtype. Patients with hypermobile Ehlers-Danlos syndrome typically experience the following symptoms:
- Hypermobility and flexibility of the joints
- Joint issues such as arthritis
- Chronic musculoskeletal pain
- Skin that easily bruises
- Chronic fatigue
- Skin that scars easily
Treatment for EDS
There is no cure for hypermobile EDS, but with comprehensive treatment, patients can manage their symptoms. Treatment can include:
- Physical activity
- Physical therapy
- Occupational therapy
- Regular monitoring
- Bracing and equipment