Ehlers-Danlos Skin stretchMedical Condition

What Is Ehlers-Danlos Syndrome, And How Is It Treated?

Ehlers-Danlos syndrome (EDS) is a genetic condition that affects the connective tissues that are responsible for supporting and structuring the skin, blood vessels, bones, and organs of the body.

Connective tissue is made up of cells, fibrous material, and a protein called collagen, and a group of genetic disorders causes Ehlers-Danlos syndrome (EDS), which then results in a defect in the production of collagen.

Types

The Ehlers-Danlos syndromes (EDS) are currently classified into thirteen subtypes, with each subtype having a set of clinical criteria that help guide diagnosis. A patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit.

There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders like the hypermobility spectrum disorders, as well as a lot of variabilities.

13 major types of Ehlers-Danlos syndrome have been subtyped, and include:

  1. cardiac-valvular
  2. classic
  3. classic-like
  4. vascular
  5. Arthrochalasia
  6. hypermobile
  7. dermatosparaxis
  8. kyphoscoliotic
  9. brittle cornea
  10. Spondylodysplastic
  11. periodontal
  12. Musculocontractural
  13. myopathic

Each type of EDS affects different areas of the body, but all types of EDS have hypermobility in common (Hypermobility is an unusually large range of movement in the joints).

According to the National Library of Medicine’s Genetics Home Reference, Ehlers-Danlos syndrome (EDS) affects 1 in 5,000 people worldwide, with Hypermobility and classic types of Ehlers-Danlos syndrome being the most common. The other subtypes of Ehlers-Danlos syndrome are rare.

Symptoms Of Ehlers-Danlos Syndromes

Clinical manifestations of an Ehlers-Danlos syndrome are most often joint and skin related and include:

Joints

  • Joint hypermobility;
  • loose/unstable joints which are prone to frequent dislocations and/or subluxations;
  • joint pain;
  • hyperextensible joints that move beyond the joint’s normal range;
  • Early onset of osteoarthritis.
  • Stretchy skin, which is caused by weakened connective tissue that allows your skin to stretch much more than usual.
  • Exceptionally soft and velvet skin.
  • Fragile skin that often doesn’t heal well when damaged. E.g, the stitches used to close a wound often will tear out and leave a gaping scar that may look thin and crinkly.
  • Chronic, early onset, debilitating musculoskeletal pain;
  • arterial/intestinal/uterine fragility or rupture;
  • scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type);
  • Poor muscle tone and muscle fatigue
  • mitral valve prolapse;
  • Gum disease.
  • redundant skin folds on the eyes
  • benign growths on pressure areas, like elbows and knees
  • heart valve problems
  • fragile blood vessels
  • thin nose and protruding eyes
  • thin lips and sunken cheeks
  • small chin
  • collapsed lung

How Is EDS Treated?

Current treatment options for EDS include:

  • physical therapy which is used to rehabilitate joint and muscle instability
  • surgery to repair damaged joints
  • drugs to minimize pain

Additional treatment options may be available in consultation with your doctor, depending on any additional symptoms you might be experiencing.

In order to prevent injuries and protect your joints, you should avoid contact sports, avoid lifting weights, avoid harsh soaps that may over-dry the skin or cause allergic reactions, use sunscreen to protect the skin, and use assistive devices to minimize pressure on your joints.

Also, if your child has EDS, put adequate padding on your child before they ride a bike or are learning to walk.

If you have a personal or family history of Ehlers-Danlos syndrome, you may benefit from talking to a genetic counselor. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you, and the risks it might pose for your children.

Causes Of Ehlers-Danlos Syndrome

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited. For those that have the most common varieties of Ehlers-Danlos syndrome, there’s a 50% chance that you’ll pass on the gene to your children.

Parents are sometimes silent carriers and may not have any symptoms of the condition of the defective genes that cause EDS. This means the parents are unaware they’re carriers of a defective gene.

Complications of EDS depend on the types of signs and symptoms you have. Overly flexible joints can result in joint dislocations and early-onset arthritis, while fragile skin may develop prominent scarring.

People who have Ehlers-Danlos syndrome, vascular type, are at risk of often fatal ruptures of major blood vessels, and some organs, such as the uterus and intestines, also may rupture.

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