Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of rare hereditary disorders involving connective tissues. Connective tissues are the tissues that support parts of the body. Examples of connective tissues are skin, tendons, ligaments, and muscles. EDS usually results in over-flexible (hypermobile) joints, over-elastic (hyperelastic) skin, and fragile tissue.

Causes

EDS is caused by defects in the genes that control the formation of connective tissue. The specific genetic defect in most types of EDS affects the production of collagen. Collagen is a structural protein. It strengthens and provides elasticity to connective tissue.

Risk Factors

A risk factor is something that increases your chances of getting a disease or condition. Risk factors for EDS include:
  • Family members with EDS
  • Race: Black

Symptoms

The severity of EDS symptoms varies from mild to very severe and debilitating. Symptoms depend on the specific type of EDS.
The most common symptoms of EDS include:
  • Loose, unstable joints that are very prone to:
    • Swelling
    • Sprains
    • Dislocation
    • Hyperextension
    • Arthritis
    • Flat feet
    • Deformities of the thoracic spine, such as:
      • Scoliosis – curvature of the spine
      • Kyphosis – a thoracic hump
  • Soft, fragile skin that stretches far too easily; as a result:
    • Skin is prone to bruise easily
    • Minor injuries can result in gaping wounds
    • Wounds heal slowly and poorly
    • Suturing skin is difficult, because skin tends to tear
    • Skin scars easily from wounds or stretching
    • Fleshy outgrowths may form on top of scars
    • Calcified nodules may form under the skin
    • The risk for surgical complications is greater due to deep tissue fragility
Other symptoms of EDS may include:
  • Eye problems such as:
    • Nearsightedness (common in adults with EDS)
    • Epicanthic fold – vertical fold of skin on either side of the nose, sometimes covering the inner corner of the eye (common in children with EDS)
    • Fragile sclera, which is the white outer coat of the eyeball
    • Perforation of the globe of the eye (rare)
  • Lung problems
  • Chronic musculoskeletal pain
  • Weak blood vessels, which can lead to:
    • Aortic aneurysm
    • Spontaneous rupture of large blood vessels
  • Problems with blood clotting, such as:
    • Bleeding
    • Easy bruising
  • Mitral valve prolapse (a heart valve problem)
  • Susceptibility to:
    • Gum disease
    • Gum bleeding
  • Gastrointestinal problems such as:
    • Hernias
    • Diverticulosis
    • Perforation or bleeding
  • Pregnancy-related problems such as:
    • Premature birth
    • Early rupture of membranes
    • Bleeding (during pregnancy or during or after childbirth)
    • Higher complications from procedures such as episiotomy and Cesarean section

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam. Tests may include:
  • Skin Biopsy – removal of a sample of skin tissue to look for abnormalities in the connective tissue
  • Tests for specific biochemical defects – these are available for certain types of EDS

Treatment

There is no known cure for EDS. Treatment usually involves treating symptoms and trying to prevent complications.
Treatment of Symptoms
Treatment may include:
  • Vitamin C supplements to help:
    • Decrease skin bruising
    • Improve wound healing
  • Special care when repairing skin wounds, to prevent scarring
  • Monitoring and treatment for complications (e.g., EDS type 5 patients should be monitored for aortic aneurysms with ultrasound or other imaging studies)
  • Medication to help control musculoskeletal pain
  • Surgery to repair joints
Preventive Treatment
Treatment may include:
  • Wearing joint braces
  • Exercising regularly
  • Having physical therapy to help strengthen muscles and joints
  • Wearing sunscreen daily to protect skin
  • Avoiding activities that may cause:
    • Injuries
    • Bruising
    • Joint over-extension

Prevention

There is no known way to prevent EDS once a person is born. If you have EDS or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.