this article just in too is useful
Ehlers-Danlos Syndrome, Hypermobility Type
Synonyms: EDS Hypermobility Type, EDS Type III, Ehlers-Danlos Syndrome Type III
Howard P Levy, MD, PhD
Department of Medicine, Division of General Internal Medicine
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine
Baltimore, Maryland
Initial Posting: October 22, 2004; Last Update: September 13, 2012.
Go to:
Summary .
Disease characteristics. Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.
Diagnosis/testing. The diagnosis of EDS, hypermobility type is based entirely on clinical evaluation and family history. In most individuals with EDS, hypermobility type, the gene in which mutation is causative is unknown and unmapped. Haploinsufficiency of tenascin-X (encoded by TNXB) has been associated with EDS, hypermobility type in a small subset of affected individuals. Testing for TNXB mutations is available on a limited clinical basis.
Management. Treatment of manifestations: Physical therapy tailored to the individual; assistive devices (braces to improve joint stability; wheelchair or scooter to offload stress on lower-extremity joints; suitable mattress to improve sleep quality); pain medication tailored to symptoms; appropriate therapy for gastritis/reflux /delayed gastric emptying/irritable bowel syndrome; possible beta-blockade for progressive aortic enlargement; psychological and/or pain-oriented counseling.
Prevention of primary manifestations: Low-resistance exercise to increase both core and extremity muscle tone for improved joint stability; appropriate writing utensils to reduce finger and hand strain.
Prevention of secondary complications: Calcium, vitamin D, low-impact weight-bearing exercise to maximize bone density.
Surveillance: DEXA every other year if bone loss is confirmed.
Pregnancy management: Labor and delivery may progress very rapidly, even in primigravid women. There is no clear advantage to vaginal vs cesarean delivery. Pregnant women with known aortic root dilation should have an echocardiogram in each trimester.
Agents/circumstances to avoid: Joint hyperextension; resistance/isometric exercise can exacerbate joint instability and pain; high-impact activity increases the risk of acute subluxation/dislocation, chronic pain, and osteoarthritis; crutches, canes, and walkers, which put increased stress on the upper extremities, should be used with caution.
Genetic counseling. EDS, hypermobility type is inherited in an autosomal dominant manner. Most individuals diagnosed with the syndrome have an affected parent. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with EDS, hypermobility type has a 50% chance of inheriting the disorder. Prenatal testing is available on a limited basis if the disease-causing mutation has been identified in the family.
Go to:
Diagnosis .
Clinical Diagnosis
Clinical diagnostic criteria and a revised nomenclature for all forms of Ehlers-Danlos syndrome (EDS) were proposed by Beighton et al [1998] (click for full text). EDS, hypermobility type is characterized chiefly by joint laxity with soft skin and easy bruising, but other organ systems (especially gastrointestinal and cardiovascular) are frequently involved. EDS, classic type has more significant skin and soft tissue manifestations, but in mild cases may be difficult to clearly distinguish from EDS, hypermobility type.
The diagnosis of EDS, hypermobility type is based entirely on clinical evaluation and family history. The criteria listed below reflect those proposed by Beighton et al [1998] as modified by the author's experience.
Major diagnostic criteria should all be met to establish a diagnosis of EDS, hypermobility type:
•
Joint hypermobility, which is often confirmed by a score of five or more on the nine-point Beighton scale [Beighton et al 1973], although some individuals with objective joint laxity score fewer than five points (see below for the sensitivity and specificity of examination for joint hypermobility). One point is scored for each of the following:
•
Passive dorsiflexion of each fifth finger greater than 90°
•
Passive apposition of each thumb to the flexor surface of the forearm
•
Hyperextension of each elbow greater than 10°
•
Hyperextension of each knee greater than 10°
•
Ability to place the palms on the floor with the knees fully extended
•
Soft skin with normal or only slightly increased extensibility
•
Soft skin is subjectively assessed, preferably in an area in which moisturizer has not been applied.
•
Skin hyperextensibility is assessed at a site lacking excess or loose skin and without evidence of prior trauma by gently pulling until resistance is met. An ideal location is the volar surface of the distal forearm or wrist, where the upper limit of normal extensibility is 1-1.5 cm. Extensor surfaces of joints have excess skin and should not be used.
•
Absence of fragility or other significant skin or soft tissue abnormalities, which are suggestive of other types of EDS. Such findings could include:
•
Spontaneous or easily induced skin cuts or tears
•
Spontaneous or easily induced tears or ruptures of tendons, ligaments, arteries, or other internal organs
•
Surgical complications, such as arterial rupture or sutures tearing through tissues and failing to hold
•
Spontaneous wound dehiscence
•
Recurrent or incisional hernias
•
Significant skin hyperextensibility (>1.5 cm on the volar wrist)
•
Thin, translucent skin
•
Atrophic ("cigarette paper") scars (although mildly atrophic scars are sometimes seen in EDS, hypermobility type, especially in areas subject to physical stress, such as extensor surfaces and the abdominal wall)
•
Molluscoid pseudotumors
Minor diagnostic criteria are supportive of but not sufficient to establish a diagnosis of EDS, hypermobility type:
•
Positive family history of EDS, hypermobility type (or family history of joint laxity), without significant skin or soft tissue fragility, in a pattern consistent with autosomal dominant inheritance
•
Recurrent joint dislocations or subluxations
•
Chronic joint, limb, and/or back pain
•
Easy bruising
•
Functional bowel disorders (functional gastritis, irritable bowel syndrome)
•
Neurally mediated hypotension or postural orthostatic tachycardia
•
High, narrow palate
•
Dental crowding
The sensitivity and specificity of examination for joint hypermobility is dependent in part on the individual's age, gender, and medical history.
•
Young children (especially age ≤5 years) tend to be very flexible and are therefore difficult to assess.
•
Women are, on average, more flexible than men.
•
Older individuals tend to lose flexibility, and post-surgical or arthritic joints often have reduced range of motion. A history of former joint laxity or clinical demonstration of substantial laxity in multiple joints is sometimes accepted in lieu of a positive Beighton score in such cases, if the family history and other minor criteria are strongly suggestive.
but makes sense. However the few times I slept with those on I woke up feeling better than normal. I haven't experimented with that enough, once it's cold enough to keep them on at night I will test it again.
