Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. With EDS, genetic mutations disrupt the production of collagen, a chief component of connective tissue.

EDS is uncommon and occurs in six major types. All types affect your joints, and most also affect your skin. Some of the more prominent symptoms of Ehlers-Danlos syndrome include flexible joints that extend beyond the normal range of movement, and skin that's especially stretchy or fragile.

The severity of signs and symptoms of Ehlers-Danlos Syndrome can vary widely. Some people may experience greater difficulty than others do. In general, signs and symptoms include:

  • Skin that's especially stretchy or fragile
  • Hernias
  • Abnormal wound healing, scars that stretch over time
  • Flexible joints that extend beyond the normal range of movement
  • Dislocations of your shoulder, knee, fingers, hip, wrist and collarbone
  • Muscle weakness
  • Delayed motor development
  • Easy bruising
  • Heart problems, such as mitral valve prolapse, aortic root dilatation and spontaneous rupture of large arteries
  • Family history of ruptured uterus, colon or brain aneurysm

  • Ehlers-Danlos syndrome is divided into six major groups, based on specific diagnostic criteria:

    . . . Hypermobility type
    This is the most common form. It may affect as many as one in 10,000 to 15,000 people. Signs and symptoms include:
  • Loose, unstable joints
  • Soft, velvety skin
  • Chronic degenerative joint disease
  • Advanced premature osteoarthritis with chronic pain
  • Heart valve problems

  • . . . Classical type
    This type probably affects about one in 20,000 to 40,000 people. Signs and symptoms include:
  • Loose joints, which are prone to dislocation and may delay the development of large-motor skills, especially when a child starts to walk
  • Highly elastic, velvety skin
  • Fragile skin that bruises or tears easily,/li>
  • Slow and poor wound healing leading to wide scarring
  • Noncancerous fibrous growths on pressure areas, such as elbows and knees; fatty growths on the shins and forearms
  • Hernias
  • Heart valve problems

  • . . . Vascular type
    This is one of the most serious forms of Ehlers-Danlos Syndrome. It affects an estimated one in 250,000 people. Signs and symptoms include:
  • Fragile blood vessels and organs that are prone to tearing, causing complications such as a ruptured or dissected artery or an aneurysm, ruptured intestines or a ruptured uterus during pregnancy
  • Thin, fragile skin that bruises easily
  • Veins visible beneath the skin
  • Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin
  • Loose joints, usually limited to the fingers and toes

  • . . . Kyphoscoliosis type
    This uncommon form has few cases reported worldwide. Signs and symptoms include:
  • Progressive curvature of the spine with respiratory problems, if severe
  • Fragile eyes that are easily damaged or ruptured
  • Muscle weakness
  • Increased risk of rupture of medium-sized arteries

  • . . . Arthrochalasis type
    Arthrochalasis is rare. Only about 30 cases have been reported worldwide. Signs and symptoms include:
  • Very loose joints and dislocation of both hips, present at birth
  • Stretchy, fragile skin that's prone to bruising and scarring
  • Early-onset arthritis
  • Increased risk of bone loss and fracture

  • . . . Dermatosparaxis type
    This form is also rare, with only about a dozen cases reported worldwide. Signs and symptoms include:
  • Extremely fragile and sagging skin
  • Loose joints, which may delay development of motor skills in children
  • Short stature
  • Delayed closure of the fontanels, the soft areas at the top of a baby's head
  • Characteristic facial appearance with swollen eyelids and a bluish tinge to the whites of the eyes
  • Umbilical hernia
  • Short fingers

  • Other types There are other rare types of Ehlers-Danlos Syndrome. Some of these are so rare that they've only been described in a few families. In addition, the relationship of some of these types to the syndrome as a whole isn't well-defined.

    The subtypes of Ehlers-Danlos syndrome are caused by a variety of genetic alterations that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.
    These genetic mutations, which are passed on from parent to child, alter normal enzyme activity, leaving connective tissues weak and unstable.

    . . . Variety of inheritance patterns
    Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you only need one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, there's a 50 percent chance that you'll pass the gene on to each of your children.

    Two EDS types — kyphoscoliosis and dermatosparaxis — are passed along in an inheritance patter called autosomal recessive. This means you need two copies of the mutated gene to develop the disease. If you inherit only one copy, you're considered a "carrier" of the disorder, but you likely won't develop signs or symptoms.

    There's no way to reverse the genetic alterations that cause EDS. Treatment focuses primarily on managing individual signs and symptoms and preventing further complications. Much of this consists of self-care strategies to protect your joints and prevent excessive bruising and injuries. Your health care team may include specialists from a variety of different fields, including medical genetics, surgery, pediatrics, orthopedics, cardiology and ophthalmology, to name a few.

    . . . Surgical considerations
    If you're to undergo surgery, make sure your surgeon knows you have EDS. Your surgeon may use adhesive tape or medical glue rather than stitches to close up incisions, because stitches may tear out of fragile skin. Surgery is sometimes required to repair joints damaged by repeated dislocations. Elective surgery isn't recommended.

    . . . Managing pain
    If you have chronic joint pain, talk to your doctor about ways to help manage the pain. This might include use of pain relievers or physical therapy or both. A physical therapist can help you develop an exercise program to strengthen your muscles, which in turn will help stabilize your joints. In general, people with EDS need to avoid activities that put pressure on locked joints, such as weightlifting. Your therapist or doctor can prescribe appropriate exercises for you.

    Although a few reports indicate that vitamin C may help reduce the severity of kyphoscoliosis symptoms, this hasn't been established. Talk to your doctor if you're thinking about taking a vitamin C supplement.

    Ehlers-Danlos Syndrome

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