“Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes. (This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus.–COL3A1). The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the mutation can be life-threatening.”
Signs and Symptoms of EDS
- hypermobile joints
- skin hyperelasticity
Here are the symptoms depending on which type of EDS you have.
Chronic degenerative joint disease
Swan neck deformity of the fingers
Boutonniere deformity of the fingers
Tearing of tendons or muscles
Deformities of the spine, such as: scoliosis or kyphosis tethered spinal cord syndrome, occipitoatlantoaxial hypermobility
Fragile skin that tears easily
Redundant skin folds
Valvular heart disease (such as mitral valve prolapse)
Dilation and/or rupture of ascending aorta
Postural orthostatic tachycardia syndrome (POTS)
Other manifestations or complications:
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
Insensitivity to local anesthetics.
Platelet aggregation failure
Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing, or premature rupture of membranes.
What is the treatment?
There is no cure for EDS, and treatment is supportive, but doctors continue to work on this and more specialty clinics are opening up for EDS.
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Learn More about EDS on These Websites
EDS Online Support Groups
Maryland Metro MCADS, POTS, EDS (Facebook)