Ehlers-Danlos Syndrome (EDS) is a hereditary condition that affects the skin and the mobility of joints due to abnormal collagen synthesis, an important component of connective tissue; the latter is abundant in the skin, joints and vessels, to which it gives strength and elasticity. Although it develops in childhood, the diagnosis is only reached in later years. The condition takes many different forms that vary in severity, so the clinical manifestations vary widely. Ehlers- Danlos syndrome diagnosis is based on physical examination, through observation of how the patient moves, and the doctor's analysis of his/her medical history. Usually, a rheumatologist or a physiotherapist establishes the diagnosis rather than a general medical practitioner.
Joint hypermobility or laxity is one of the most characteristic signs of Ehlers-Danlos Syndrome. Small joints are particularly more affected than large joints. An excessive degree of joint mobility is as bad in its own way as joint stiffness. To someone who enjoys gymnastics, it might sound as though it could be advantageous to have such flexible joints, but the joint flexibility gymnasts seek to achieve is something totally different. If joints move too freely, it causes lots of pain and easily leads to dislocations. Someone who suffers from EDS is much more likely to get sprains and dislocations than normal healthy individuals.
Doctors will notice that their patient's skin feels unusually velvety when they touch it. In addition to this very distinctive texture, they also observe how the skin is extremely wrinkled and brittle. Quite often, the skin becomes wrinkled with stretch marks at an early age. The fact that an EDS patient has some skin issues does not automatically mean the joints will be affected and vice versa.
Since the eye is very rich in connective tissue and particularly collagen, anyone with EDS must pay particular attention to any visual disturbance even if is not associated with visual loss. Ocular symptoms of EDS may include dry eye, dislocation of the ocular lens, retinal hemorrhages, and macular degeneration. A yearly eye exam is thus recommended as a rule, and the presence and nature of any pain, discharge, redness or any changes in visual acuity require an immediate evaluation.
A slight knock in a healthy person will result in a bruise that will disappear in a few days or a cut that quickly heals. With Ehlers-Danlos Syndromet, it is a different story. A little bang leaves a disproportionate mark or wound that refuses to heal. If they need to get stitches for a more serious wound, they tear and leave a nasty scar. If the patient requires surgery, the fragility of their skin and absence of the regular healing process make procedures much more complex.
Pregnancy in women with Ehlers-Danlos Syndrome is not contraindicated, but it poses additional health risks. A gynecologist needs to know the presence of this condition during the pregnancy. EDS can cause premature births with all the associated complications that develop for both baby and mother. Vaginal delivery of the baby may be associated with an increased risk for extensive perineal trauma, poor episiotomy healing. On the other side, cesarean delivery may be complicated by a secondary hernia on the site of the incision and poor skin healing with post-natal bleeding.
An extreme type of the disease is represented by Vascular Ehlers-Danlos Syndrome, which involves the blood vessels in key organs, and can cause unpredictable ruptures.
A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus during pregnancy affects 2 to 3 percent of women. If a patient with EDS complains of chest pain, abdominal pain or neck pain he or she should be immediately investigated by MRI or CT-Scan to expedite the diagnosis and treatment.
When you consider all the ways that Ehlers-Danlos Syndrome affects the lives of those with this illness and their families, flat feet must rank as one of its less serious manifestations. Statistics show that about 90% of adult EDS sufferers have flat feet. Although sometimes they can be painful, flat feet usually do not cause any pain. This problem is also easy to treat, for example, with the aid of arch supports or physical therapy.
Experiencing these symptoms is extremely disturbing. The person's first natural reaction is to assume they might have a serious heart problem. In all events, someone who senses their heartbeat is abnormal and who starts to feel dizzy should seek the nearest medical assistance. There is no such thing as being too cautious in these circumstances. The technical name for this Ehlers-Danlos Syndrome-associated health issue is POTS or Postural Orthostatic Tachycardia Syndrome. The doctor is trained to distinguish it from other conditions that affect the functioning of the heart.
Ehlers-Danlos Syndrome may result in early and accelerated osteoarthritis or joint "wear and tear" due to joint instability. In addition to joint pain, patients may also have increased stress on the muscles and ligaments around a joint as well as nerve-related pain. It has been shown that in such chronic pain states, the pain-sensing system in the spinal cord and brain, does not function properly. As a consequence, residual pain signals from a site of a healed injury in EDS may become amplified, and this can be extremely disabling from physical, emotional, and social perspectives.
Skeletal deformities may be apparent at birth, including abnormal sideways curvature of the spine (congenital scoliosis) that becomes progressively severe and is generally associated with diminished muscle tone (hypotonia). In children with the disorder, severe hypotonia may cause delays in the acquisition of certain motor skills, and affected adults may lose the ability to walk by the second or third decade of life.
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