Ehlers-Danlos syndrome- hypermobile type
Overview
A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and - previously known as EDS type 3.
Symptoms
* Lax joints * Connective tissue fragility * Joint hypermobility * Joint dislocation * Soft skin * Connective tissue fragility * Skin hyperextensibility * Smooth, velvety skin * Joint dislocations * Chronic limb pain * Chronic joint pain * Easy bruising * Mitral valve prolapse
Diagnosis
The diagnosis of EDS, hypermobility type is based entirely on clinical evaluation and family history. In most individuals with EDS, hypermobility type, the causative gene is unknown and unmapped. Haploinsufficiency of tenascin X (encoded by the gene TNXB) has been associated with EDS, hypermobility type in a small subset of affected individuals.
Treatment
Treatment of manifestations: physical therapy tailored to the individual; assistive devices (braces to improve joint stability; wheelchair or scooter to offload stress on lower-extremity joints; suitable mattress to improve sleep quality); pain medication tailored to symptoms; appropriate therapy for gastritis/reflux /delayed gastric emptying/irritable bowel syndrome; possible beta-blockade for progressive aortic enlargement; psychological and/or pain-oriented counseling. Prevention of primary manifestations: low-resistance exercise to increase muscle tone for improved joint stability; appropriate writing utensils to reduce finger and hand strain. Prevention of secondary complications: calcium, vitamin D, low-impact weight-bearing exercise to maximize bone density. Surveillance: DEXA every other year if bone loss is confirmed. Agents/circumstances to avoid: joint hyperextension; resistance/isometric exercise can exacerbate joint instability and pain; high-impact activity increases the risk of acute subluxation/dislocation, chronic pain, and osteoarthritis; cautious use of crutches, canes, and walkers, which put increased stress on the upper extremities.