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Ehlers Danlos Syndrome

  • Ehlers-Danlos Syndrome (EDS) is a group of rare genetic disorders that affect a person's connective tissue. Connective tissue consists of proteins, such as collagen, that provide elasticity and support to the joints, blood vessels and skin.

    • Ehlers-Danlos Syndrome occurs in 1 out of every 5,000 babies worldwide.
    • It's often misdiagnosed as fibromyalgia.
    • EDS affects males and females from all racial and ethnic backgrounds.
    • There is no known cure.

     

    Genetics
    Boston Children's Hospital

    300 Longwood Avenue
    Boston, MA 02115

    857-218-4637

  • Types of Ehlers Danlos syndrome

    There are six major types of EDS. All types affect the joints and most affect the skin.

    • Hypermobility
      • the most common type
      • caused by mutations in two different genes
      • formerly called type III
    • Classical types I & II
    • Vascular (type IV)
      • most severe type
      • life expectancy is 48 years
    • Kyphoscoliosis (type VI)
      • fewer than 60 cases reported worldwide
         
    • Arthrochalasis types (VIIA & B)
      • about 30 cases reported worldwide
    • Dermatosparaxis type (VIIC)
      • the most rare of all six types, with only 10 cases reported worldwide

    What causes Ehlers Danlos syndrome?

    If you child has Ehlers Danlos syndrome, she has inherited at least one copy of an altered gene. Some types of the disorder result from a genetic defect that disrupts the baby's body's ability to make collagen, a primary component of connective tissue. This causes the child to have joint pain and other symptoms of the disorder.

    What are the symptoms of Ehlers Danlos syndrome?

    The symptoms of EDS vary depending on the type of disorder, and can range from mild to life threatening. Some of the common symptoms include:

    • hypermobility in the hands, fingers and toes
    • loose joints that are prone to sprains, dislocations and double-jointedness
    • flat feet
    • a high narrow palate with dental crowding
    • pale, smooth skin that bruises easily
    • skin that stretches easily
    • wounds that don't heal easily and with abnormal scarring
    • hernias
    • myalgia and arthralgia
    • muscle weakness, especially when cold
    • early onset osteoarthritis

    Some of the less common symptoms include:

    What are the complications?

    People with EDS, especially the kyphoscoliosis type, are more prone to osteoporosis and eye problems. Other types may increase the risk of developing gum disease and mitral valve prolapse, a heart condition in which one of the valves in the heart does not close properly, which affects the flow of blood and the delivery of oxygen to throughout the child's body.

    Can a child with EDS be physically active?

    Children with EDS are encouraged to do non-weight bearing activities, such as swimming, which does not tax the joints. Repetitive activities, like weight lifting, are discouraged. Push-ups and other exercises that require pushing with the palm of the hand can cause fingers to hyper-extend and are therefore not recommended.

  • Boston Children's doctors use different criteria for diagnosing the different types of EDS. Some types can be diagnosed with a DNA test, while others are diagnosed by a physical exam and health history. For example, a DNA test for certain genetic mutations can be done for the classical, vascular, kyphoscoliosis and arthrochalasis types of EDS. A prenatal diagnosis is possible for these types as well. Some of the other tests to diagnosis EDS include:

    • urine testing to check for abnormal levels of certain substances, which can indicate kyphoscoliosis type EDS; this test is recommended for infants with at least three symptoms
    • skin biopsy to identify abnormalities in your child's skin's collagen fibers to help diagnose vascular type EDS
    • heart ultrasound to checks for mitral valve prolapse and aortic dilatation that can occur with classical and hypermobility type EDS

    When an underlying genetic cause is not known, your child's medical team can diagnose EDS through a physical examination and a medical and family history. Symptoms, such as loose joints, fragile skin and a family history for EDS, help lead doctors to an accurate diagnosis.

  • Since there is no cure for EDS, treatment involves managing the symptoms. This may include protecting your child's joints from injury, alleviating chronic joint pain with medication and preventing early onset of arthritis. Physical and occupational therapy can help strengthen muscles around the joints.

    Other forms of treatment depend on the type of EDS and may include:

    • bracing to help to stabilize joints
    • one to 4 grams of ascorbic acid (Vitamin C) daily to help minimize bruising
    • pain relievers to manage chronic pain in joints
    • wearing sunscreen and protective clothing, guards or padding
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