Causes of Ehlers-Danlos Syndrome
EDS is caused by mutations in genes that encode for collagen or collagen-modifying proteins. There are a variety of types of EDS which are due to mutations at specific genes. A few are highlighted below:
- Classical EDS: Mutations in COL5A1 or COL5A2
- Vascular EDS: Mutations in COL3A1
Symptoms of Ehlers-Danlos Syndrome
Symptoms vary by type but commonly include:
- Hypermobile (very flexible) joints leading to frequent dislocations
- Stretchy, thin skin that bruises easily
- Joint and muscle pain
- Fatigue
Associated Conditions
EDS can be associated with various other conditions, including:
- Dysautonomia: Disorders of the autonomic nervous system, leading to symptoms like dizziness, fainting, and heart rate abnormalities
- Gastrointestinal issues: Problems such as irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), and chronic constipation.
- Osteoarthritis: Early-onset arthritis due to joint instability and damage
- Chronic pain: Persistent pain due to joint hypermobility and related complications
Prognosis of Ehlers-Danlos Syndrome
The prognosis depends on the type and severity. Classical and hypermobile types have a relatively good prognosis with appropriate management, while vascular EDS has a higher risk of life-threatening complications. Early diagnosis and tailored management are crucial.
Diagnosis of Ehlers-Danlos Syndrome
The mainstay of diagnosis EDS is through a history and physical exam.
Pain Medicine Intervention for Ehlers-Danlos Syndrome
EDS can usually be treated with pain medicine intervention, activity modification, and conservative treatment options. These include:
- Over-the-counter (OTC) pain relievers: NSAIDs like ibuprofen or acetaminophen reduce swelling and relieve pain.
- Topical treatments: Creams or patches containing anesthetics or anti-inflammatory drugs.
- Corticosteroids: Injection corticosteroids to reduce inflammation in painful joints.
- Nerve blocks: Your provider may inject a local anesthetic around specific nerves to block pain.
- Physical therapy: Exercises and techniques to manage pain and improve function.
Treatment of Ehlers-Danlos Syndrome
Treatment focuses on managing symptoms and preventing complications:
- Physical therapy to strengthen muscles and protect joints.
- Regular cardiovascular monitoring for vascular EDS.
- Avoiding high-risk activities that may lead to injury.
Treatment Videos
References
- Allen, D. (16 June 2021). Ehlers-Danlos syndrome. Retrieved from https://www.orthobullets.com/pediatrics/4111/ehlers-danlos-syndrome
- Autoimmune Connect. (04 September 2018). Spotlight on Ehlers-Danlos syndrome (EDS). Retrieved from https://drbonnie360.com/2018/09/04/spotlight-eds/
- Mayo Clinic Staff. (5 August 2022). Ehlers-Danlos syndrome. Retrieved from https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
- MedlinePlus. (n.d.). Ehlers-Danlos syndrome. Retrieved from https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/
- NHS. (04 October 2022). Ehlers-Danlos syndromes. Retrieved from https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
- The Ehlers-Danlos Society. (n.d.). What is EDS? Retrieved from https://www.ehlers-danlos.com/
