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Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect a person's connective tissue. Connective tissue consists of collagen and other proteins which provides strength, elasticity and support to the joints, blood vessels, and skin. The severity and symptoms of the EDS syndromes can vary greatly, from mild to life-threatening, with no known cure.
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EDS is commonly misdiagnosed as fibromyalgia.
Often people aren?t diagnosed until serious complications occur.
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EDS affects males and females from all racial and ethnic backgrounds. Some types of EDS are caused by genetic mutations that disturb the production or processing of collagen, a primary component of connective tissue. Most forms of EDS, which occurs in 1 in 5,000 live births worldwide, are inherited when at least one of the two copies of the gene are altered.
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There are six different types of EDS. Hypermobility is the most common, followed by classical; the other four types are very rare. For example, less than 10 people worldwide have been diagnosed with the dermatosparaxis type.
The six types of EDS include:
- Hypermobility (formerly called type III): mutations in either of two separate genes may lead to this type but in most cases the genetic etiology is unknown
- Classical types I & II
- Vascular (type IV): most severe with life expectancy around 48 years
- Kyphoscoliosis (type VI): fewer than 60 cases reported
- Arthrochalasis types (VIIA & B): 30 cases reported
- Dermatosparaxis type (VIIC): 10 cases reported
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Main symptoms of EDS include (the actual findings differ by type):
- 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 or symptoms of temperomandibular joint disorder
- delicate, pale skin prone to bruising
- hyperextensible skin
- poor wound healing with abnormal scar formation
- hernias
- very smooth skin
- myalgia and arthralgia
- muscle weakness, especially when cold
- osteoarthritis (early onset)
- cardiac conditions
Other symptoms can include:
- low bone density
- scoliosis
- irritable bowel syndrome
- carpal tunnel syndrome
- hearing loss
- delayed motor skills in infants (sitting, standing, walking)
- large eyes, small chin, thin nose and lips
- small stature
- rupture of blood vessels and organs (in Vascular EDS)
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If the underlying genetic defect is known, then prenatal diagnosis can be done.
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A personal or family history of EDS can indicate the need for a genetic counselor prior to pregnancy to determine the risk of inherited disorders. Doctors may suggest an amniocentesis for prenatal diagnosis (to see if the fetus is affected), monitoring the pregnancy closely for complications and in some instances (such as for the vascular form), doctors may advise against pregnancy altogether because of the high risk of complications, such as premature delivery, excessive bleeding or uterine rupture; all of which can be life-threatening.
Having EDS (particularly the kyphoscoliosis type) increases the risk of eye problems and disorders and requires monitoring by an eye specialist familiar with EDS, and increases the risk of developing osteoporosis.
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Your health care team, which can include medical geneticists, surgeons, pediatricians, orthopedists, cardiologists and ophthalmologists, among others, will perform a complete physical examination and take a thorough medical and family history. Loose joints, fragile skin and a family history of EDS may lead to diagnosis. There are clinical criteria used to diagnose the different forms of EDS.
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The testing available depends upon the type of EDS. For Classical EDS, DNA testing can be done, but only detects changes in the gene in about 50% of cases diagnosed clinically. For Hypermobility EDS, confirmatory testing is not available clinically.
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Tests include:
- Urine testing: abnormal metabolite levels typically indicate kyphoscoliosis type EDS; this test is recommended for infants with three or more symptoms.
- DNA testing: specific mutations can be precisely identified by genetic testing for classical, vascular, kyphoscoliosis and arthrochalasis type EDS.
- Skin biopsy: may reveal abnormalities in the skin's collagen fibers to help diagnose vascular type EDS.
- Heart ultrasound: checks for mitral valve prolapse and aortic dilatation that can occur with classical and hypermobility type EDS.
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There is no known cure for EDS, however there are steps individuals with EDS can take to manage their condition and symptoms and prevent complications:
- bracing can help to stabilize joints
- physical or occupational therapy to strengthen muscles
- 1 to 4 grams of ascorbic acid (Vitamin C) daily may minimize bruising (the treatment for the Kyphoscoliosis form and may help with skin healing in vascular EDS, but does not affect the other complications of vascular EDS)
- pain relievers to manage chronic pain in joints
- Avoid injury, contact sports and weightlifting
- Wear protective clothing, guards or padding
- Wear sunscreen
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