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Ehlers-Danlos Syndrome

Authors:
  • Rick Alan
Publication Type:

Condition

Ehlers-Danlos Syndrome

(EDS)

Definition

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions. These conditions affect the connective tissues. This type of tissue is found all over the body. There are at least 6 different varieties of EDS. They are classified by the type of tissue most affected and how it is inherited.

Causes

EDS is caused by a problem in the genetic material. It mainly affects the genes that create connective tissue.

Most types of EDS affect the production of collagen. Collagen is an important part of connective tissue. It gives the tissue strength and allows it to stretch.

Risk Factors

Having family members with EDS increases your chance of EDS.

Symptoms

The symptoms of EDS can vary. Some may have mild symptoms. Others may have severe and life-changing symptoms.

The most common symptoms of EDS include problems with the joints and skin. Joints are loose and unstable which can lead to:

  • Swelling
  • Sprains
  • Dislocations
  • Joint pain
  • Flat feet
Kyphosis.

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Skin is soft, fragile, and can stretch far too easily. This can lead to problems such as:

  • Easy bruising
  • Minor injuries turning into gaping wounds
  • Slow and poor wound healing
  • Difficulty suturing skin because skin tends to tear
  • Skin scarring from wounds or stretching
  • Fleshy outgrowths on top of scars
  • Calcified nodules under the skin
  • Increased risk of surgical complications

Other symptoms depend on the type of EDS you have. EDS can cause problems with

  • Eyes, such as:
    • Nearsightedness
    • Epicanthic fold—fold of skin on either side of the nose may cover the inner corner of the eye, which is common in children with EDS
    • Fragile sclera—the white outer coat of the eyeball
    • Hole in the globe of the eye—rare
  • Lungs—due to loss of normal elastic tissue
  • Bones and muscles—such as chronic pain
  • Blood vessels—weak tissue can lead to aortic aneurysms and rupture of blood vessels
  • Blood clotting—can lead to easy bruising and bleeding
  • Heart valves—such as mitral valve prolapse
  • Gums—bleeding and diseases
  • Gastrointestinal system, such as:
    Hiatal Hernia.

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  • Pregnancy, such as:
    • Premature birth
    • Early rupture of membranes
    • Bleeding during pregnancy and excessive bleeding during or after childbirth
    • Uterine rupture
    • Higher complications from procedures
  • Muscles—low muscle tone with delayed motor development

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done. This is usually enough to diagnosis EDS in most people. When the diagnosis is uncertain, tests may include:

  • Skin biopsy —to look for abnormalities in the connective tissue
  • Detection of specific biochemical defects—available for certain types of EDS

Treatment

There is no known cure for EDS. Treatment may be needed to manage symptoms and or to try to prevent complications.

Prevention

There is no known way to prevent EDS. If you have EDS or have a family history of the condition, consider genetic counseling when deciding to have children. The counselor can talk to you about the risk of your child having EDS.

Treatment of Symptoms

Treatment will depend on your type of EDS and how severe it is.

For complications of the skin:

  • Vitamin C supplements may be helpful in certain subtypes of EDS. It may help to decrease skin bruising and improve wound healing.
  • Special care will be taken when repairing skin wounds. This may help to prevent or decrease scarring.

For musculoskeletal complications:

  • Medication may help control pain.
  • Surgery may be done to repair joint damage.

Some potential problems will need to be monitored. This includes people at risk for blood vessel complications. Your doctor may ask for regular testing to examine major blood vessels.

Blood transfusions may be needed for severe bleeding.

Treatment of Symptoms

Treatment will depend on your type of EDS and how severe it is.

For complications of the skin:

  • Vitamin C supplements may be helpful in certain subtypes of EDS. It may help to decrease skin bruising and improve wound healing.
  • Special care will be taken when repairing skin wounds. This may help to prevent or decrease scarring.

For musculoskeletal complications:

  • Medication may help control pain.
  • Surgery may be done to repair joint damage.

Some potential problems will need to be monitored. This includes people at risk for blood vessel complications. Your doctor may ask for regular testing to examine major blood vessels.

Blood transfusions may be needed for severe bleeding.

Treatment to Reduce the Risk of Harm

Certain steps may help you reduce the chance of complications. The following may help you:

  • Wear joint braces.
  • Do muscle strengthening exercises.
  • Consider physical therapy to help strengthen muscles and joints.
  • Wear sunscreen daily.
  • Avoid activities that may cause injury, bruising, or over-extending your joints.
  • Children may be asked to wear protective gear during activity.
  • Talk to your doctor about possible pregnancy complications.
RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Ehlers-Danlos syndrome. EBSCO DynaMed website. Available at: http://www.dynamed.com/topics/dmp~AN~T116705/Ehlers-Danlos-syndrome . Accessed January 29, 2021.
  • Questions and Answers about Heritable Disorders of Connective Tissue. National Institute of Arthritis and Musculoskeletal and Skin Diseases website. Available at: http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp. Accessed January 29, 2021.

Contributors

  • Chelsea Skucek, MSN, BS, RNC-NIC
Last Updated:
2020-03-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.