Ehlers Danlos Syndrome : What is Ehlers Danlos Syndrome? / Signs and Symptoms

Ehlers Danlos Syndrome - Is there any major signs or symptoms in your family who is identified having a Ehlers Danlos Syndrome? What is Ehlers Danlos Sydrome? Ehlers Danlos Syndrome also known as “Cutis hyperelastica” is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue).

Ehlers Danlos Syndrome : What is Ehlers Danlos Syndrome?

The syndrome Ehlers Danlos Syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.

Symptoms vary widely based on which type of EDS the patient has. However, in each case, the symptoms are ultimately due to faulty or reduced amounts of Type III collagen.

The collagen in connective tissue helps tissues to resist deformation (increases its elasticity). In the skin, muscles, ligaments, blood vessels, and visceral organs collagen plays a very significant role and with reduced elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no cure and treatment is supportive including close monitoring of cardiovascular system.

A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.

Ehlers Danlos Syndrome : Signs and Symptoms

Ehlers Danlos Syndrome most typically affects the joints, skin, and blood vessels. Ehlers Danlos Syndrome signs and symptoms include:

* Highly flexible fingers and toes
* Loose, unstable joints that are prone to: sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness)
* Flat feet
* High and narrow palate, resulting in dental crowding
* Easy bruising
* Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
* Velvety-smooth skin which may be stretchy
* Abnormal wound healing and scar formation
* Low muscle tone and Muscle weakness
* Early onset of osteoarthritis
* Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis ofmitral valve prolapse)

Ehlers Danlos Syndrome, less common symptoms and complications can include:

* Osteopenia (low bone density)
* Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility , Arnold-Chiari malformation
* Functional bowel disorders (functional gastritis, irritable bowel syndrome)
* Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
* Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
* Fibromyalgia symptoms: Myalgia and arthralgia
* otosclerosis (hearing loss)
* Premature rupture of membranes during pregnancy
* Platelet aggregation failure (platelets do not clump together properly)
* Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
* Arterial/intestinal/uterine fragility or rupture

Ehlers Danlos sydrome is often goes undiagnosed in childhood, some instances have been identified as child abuse, while the pain associated with this condition is a serious complication.

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