Ehlers-Danlos syndrome (EDS) is a group of Heritable Disorders of Connective Tissue (HDCT) that includes hypermobile Ehlers-Danlos syndrome (hEDS). Defects in collagen cause these conditions.
EDS and hEDS characterized by1:
- Generalized joint hypermobility
- Joint instability
- Joint pain
- Soft and hyperextensible skin with atrophic scars and easy bruising
- Dental crowding
- Abdominal hernias
- Pelvic organ prolapse
- Marfanoid body habitus
- Mitral valve prolapse (MVP) - the mitral valve is also known as the bicuspid valve or left atrioventricular valve
- Aortic root dilatation
Treatment Options for EDS and hEDS
The following are some treatment options for EDS and hEDS1:
- Exercise to increase core and extremity muscle strength and tone
- Proprioception and joint stability
- Braces and splints to improve alignment and control
- Occupational therapy for assistive devices (e.g., wide-grip writing utensils, home and work ergonomics)
- Physical therapy for assistive devices (e.g., wheelchair or scooter, suitable mattress, soft neck collar)
- Pain management tailored to cause and symptoms
- Platelet disorders may respond to tranexamic or mefenamic acid
- Nutrition advice for micronutrient deficiencies
- Gastritis, gastroparesis, and gastroesophageal reflux disease may require intensive pharmacotherapy
- Therapies for other gastrointestinal, cardiovascular, ocular, neurologic, and urogynecologic manifestations
- Orthodontic, maxillofacial, and ENT management for narrow palate, crowded teeth, temporomandibular joint laxity and dysfunction, and disorders of swallow and phonation
- Standard treatment of periodontal disease
- Avoidance of triggers for mast cell activation disorder and pharmacotherapy or monoclonal biologic therapy as needed
- Counseling and pharmacotherapy for neurobehavioral and psychiatric manifestations
Other Hypermobility Disorders
The following are a few other hypermobility disorders:
- Hypermobility Spectrum Disorders (HSD) is a less severe condition than EDS and hEDS. HSD is a term used to describe individuals who do not meet the diagnostic criteria for hypermobile EDS but still exhibit joint hypermobility and related symptoms.
- Marfan Syndrome (MFS) most commonly affects the heart, eyes, blood vessels, and skeleton. If the aorta — the large blood vessel that carries blood from your heart to the rest of your body - is affected, Marfan Syndrome can be life-threatening.
- Stickler Syndrome is a genetic disorder that causes joint, hearing, and vision problems. It results in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems, including hypermobility.
- Osteogenesis Imperfecta (OI) is a group of inherited conditions characterized by fragile bones and fractures that arise spontaneously or after minimal trauma.
- Joint Hypermobility Syndrome (JHS) people who have symptomatic hypermobility but do not meet the criteria for any of the known, genetically identifiable hypermobility syndromes.
Note: Joint hypermobility is very common and normally doesn't cause any pain or medical issues. It simply means your joints can move beyond the normal range of motion (also known as being "double-jointed"). If it causes joint pain, joint and ligament injuries, tiredness (fatigue), bowel issues, and other symptoms, it may be time to check for HDS, EDS, or hEDS. Call or click here to schedule an appointment with us.
Resources:
- Hakim A. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [Updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1279/
