What is Ehlers–Danlos syndrome (EDS)

edsWhat is EDS?

From Wiki:

“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.

Musculoskeletal:

Photo Source: www.eatonhand.com
Photo Source: www.eatonhand.com

Hyper-flexible joints
Unstable joints
osteoarthritis
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
Muscle Pain
Joint Pain

Skin:

Fragile skin that tears easily
Easy bruising
Redundant skin folds
Molluscoid pseudotumors
Subcutaneous spheroids
Livedo reticularis

.
Cardiovascular:

Arterial rupture
Valvular heart disease (such as mitral valve prolapse)
Dilation and/or rupture of ascending aorta
Postural orthostatic tachycardia syndrome (POTS)
Raynaud’s Phenomenon

.
Other manifestations or complications:

Hiatial hernia
Anal prolapse
Collapsed lung
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
Insensitivity to local anesthetics.
Arnold–Chiari malformation
Platelet aggregation failure
Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing,  or premature rupture of membranes.
Sleep Apnea

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.

Click on Chart to Enlarge

types of EDS
Photo Source: Wiki

 Learn More about EDS on These Websites

Ehlers-Danlos syndrome by Mayo Clinic

The Ehlers-Danlos National Foundation

EDS on Medline Plus

Children and EDS

Genetics of Ehlers-Danlos Syndrome Treatment & Management

NYU Langone Medical Center on EDS

Genetic Testing for EDS

Collagen Diagnostic Labs

Hypermobility Syndromes Association

Is it Ehlers-Danlos Syndrome?

Local anaesthetic failure in joint hypermobility syndrome

Ehlers—Danlos syndrome and multiple sclerosis: a possible association

EDS (Ehlers-Danlos Syndrome) – My Story

A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome

It’s Not About “Flexibility”

EDS Online Support Groups

Central Illinois EDS Group (Facebook)

Ehlers-Danlos Syndrome (EDS) Support of Northern California (Facebook)

Maryland Metro MCADS, POTS, EDS (Facebook)

EDS Today (Facebook)

EDS- Zebras Need Zebras (Facebook)

Books on EDS

 Another Connective Tissue Disorder You May Want to Learn More about is Stickler Syndrome. 

EDS and Lyme Poll

It is hard to find any research linking Lyme disease to Ehlers–Danlos syndrome, yet in the support groups many seem to be diagnosed with both, so here is a poll to see how common this is in the Lyme community.

 

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