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Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome hypermobility type


Other Names for this Disease

  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I was wondering if there were any underlying problems I should be concerned about associated with Ehlers-Danlos syndrome hypermobility type.

Our Answer

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What is Ehlers-Danlos syndrome (EDS) hypermobility type?

Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that affects the tissues that support the skin, bones, blood vessels, and other organs. It is generally considered the least severe type of Ehlers-Danlos syndrome; however significant complications can occur. Symptoms include soft velvety skin, hyperextensible skin, dislocations, degenerative joint disease, chronic pain, and easy bruising. It is inherited in an autosomal dominant manner. In most cases the underlying genetic cause is unknown.[1]
Last updated: 1/19/2012

What are the signs and symptoms of Ehlers-Danlos syndrome (EDS) hypermobility type?

The signs and symptoms vary from mildly loose joints to musculoskeletal complications. Most often, this condition affects the joints and skin. An unusually large range of joint movement (hypermobility) is the most common symptom. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals also tend to bruise easily.[2]
Last updated: 1/19/2012

What complications are associated with Ehlers-Danlos syndrome (EDS) hypermobility type?

Ehlers-Danlos syndrome hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, do occur. Most individuals who seek medical care are female. Pain and major joint complications are much less common among affected males. Joint discloations are common and represent the major feature of this condition. They can occur spontaneously or with minimal trauma and can be acutely painful. Associated pain can last for hours or days after an event. Younger individuals and females tend to have more substantial joint laxity than older individuals and males. Degenerative joint disease (osteoarthritis) occurs at a younger age than in the general population, possibly because of chronic joint instability. Also, bone mineral density may be reduced (osteoperosis), even in young adulthood.[1]

Chronic pain, distinct from that associated with acute dislocations or advanced osteoarthritis, is a serious complication of the condition and can be both physically and psychosocially disabling. The pain is often variable with regard to age of onset (as early as adolescence or as late as the fifth or sixth decade), number of sites, duration, severity, and response to therapy. Fatigue and sleep disturbance are frequently associated with pain as well. Individuals are often initially diagnosed with chronic fatigue syndrome, fibromyalgia, depression, and/or hypochondria prior to recognition of joint laxity and establishment of the correct underlying diagnosis.[1]

In addition to chronic osteoarthritic pain, at least two recognizable pain syndromes are likely. Muscular or myofascial pain and neuropathic pain. Muscular or myofascial pain is usually localized around or between joints and is often described as aching, throbbing, or stiffness. Neuropathic pain is described as electrical, burning, shooting, numb, tingling, or hot or cold discomfort. Headaches, especially migraines, are common, caused at least in part by muscle tension.[1]

Easy bruising is quite common, usually without a known cause. Mildly prolonged bleeding and nose bleeds can also occur. Functional bowel disorders are common and underrecognized, affecting up to 50% of those with this condition. Gastroesophageal reflux and gastritis may also be seen in affected individuals as well. Early satiety (feeling full after eating) and delayed gastric emptying may occur and can be worsened by opioid and other medications. Individuals can also have irritable bowel syndrome, which can cause diarrhea, constipation, abdominal cramping, and rectal mucus.[1]

Some individuals can experience heart problems. About one-third to one-half of those with EDS hypermobility type report atypical chest pain, heart palpitations at rest or on exertion, and/or orthostatic intolerance, which is often a symptom of postural orthostatic tachycardia syndrome or POTS. One-quarter to one-third of affected individuals have mild aortic root dilation; however there is no increased risk of aortic dissection in the absence of significant dilatation.[1]

Periodontal disease (such as gingivitis and gum recession) occurs in some people with EDS hypermobility type. Temporomandibular joint dysfunction (TMJ syndrome) is also relatively common and is usually due to joint degeneration and osteoarthritis.[1]

Pregnancy may be complicated by premature rupture of membranes or rapid labor and delivery (less than four hours). But this is usually not common. Joint laxity and pain typically increase throughout pregnancy, especially in the third trimester, which normally occurs during pregnancy in unaffected women. No other complications are associated with pregnancy. Pelvic prolapse and dyspareunia (painful intercourse) can occur in females.[1] 

Psychological issues, including depression, anxiety, and low self-confidence, is more common in persons with EDS, especially among those with greater fatigue.[1]
Last updated: 9/16/2014

References
Other Names for this Disease
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.