Ehlers-Danlos syndrome hypermobility type
- Benign joint hypermobility syndrome
- EDS III
- EDS3 (formerly)
- Ehlers-Danlos syndrome type 3
Your QuestionI was wondering if there were any underlying problems I should be concerned about associated with Ehlers-Danlos syndrome hypermobility type.
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A small percentage of people with the diagnosis of hypermobility type of Ehlers-Danlos syndrome have mutations in the TNXB gene resulting in tenascin X deficiency which disrupts the normal organization of collagen fibrils and elastic fibers. These cases are inherited in an autosomal dominant manner and more rarely in an autosomal recessive pattern.
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.
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.
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.
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.
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.
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.Psychological issues, including depression, anxiety, and low self-confidence, is more common in persons with EDS, especially among those with greater fatigue.
- Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed 9/16/2014.
- Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 9, 2014; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes. Accessed 3/13/2015.
- TNXB. Genetics Home Reference. May, 2006; http://ghr.nlm.nih.gov/gene/TNXB. Accessed 4/23/2015.
- Ehlers-Danlos syndrome. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 9/16/2014.