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Ehlers-Danlos Syndrome Causes, Symptoms, Diagnosis and Treatment

What Is Ehlers-Danlos Syndrome?

Ehlers-Darlos syndrome is an inherited connective tissue disorder with presentation which has been classified into several types. It mainly affects skin, joints and blood vessel walls.
Usually caused by a defect in the structure or processing of collagen, Ehlers-Danlos syndrome is incurable.
Due to general poor knowledge about Ehlers-Danlos syndrome, people affected by it are often misdiagnosed with other conditions, which may include hypochondriasis, depression or chronic fatigue syndrome.
Ehlers-Danlos syndrome leads to development of overly flexibly joints and fragile fingers. Many sufferers of Ehlers-Danlos Syndrome have psychological difficulties as a result of frustration with the medical system and the socially inconvenient combination of appearing normal while being in severe pain.
To deal with these issues, interest groups have tried to raise awareness about it among medical professionals. Because one can appear healthy despite developing it, therefore it is considered an invisible disability.

Causes Of Ehlers-Danlos Syndrome:

There are various types of Ehlers-Danlos syndrome. These have been positively identified to be linked to specific genetic variation.

Mutations in the following genes can cause subtypes of the Ehlers–Danlos syndrome:

  •     Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
  •     Enzymes: ADAMTS2, PLOD1, B4GALT7, DSE, and D4ST1/CHST14

Mutations in the above mentioned genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the development of symptoms.
Inheritance patterns depend on the type of Ehlers–Danlos syndrome. Most variations of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause it.

Symptoms Of Ehlers-Danlos Syndrome:

The following signs and symptoms may be exhibited:

  •     Musculoskeletal
    Hyper-flexible joints] Unstable joints
    Thoracic outlet syndrome
    Early onset of advanced osteoarthritis
    Chronic degenerative joint disease
    Swan neck deformity of the fingers
    Boutonniere deformity of the fingers
    Tearing of tendons or muscles
    Myalgia (muscle pain) and arthralgia (joint pain)
  •     Skin
    Fragile skin that tears easily
    Atrophic “cigarette paper” scars
    Easy bruising
    Redundant skin folds
    Subcutaneous spheroids
  •     Cardiovascular
    Arterial rupture
    Valvular heart disease
    Dilation and/or rupture of ascending aorta
    Postural orthostatic tachycardia syndrome
    Raynaud’s phenomenon
    Varicose veins
    Heart Murmur

Diagnosis Of Ehlers-Danlos Syndrome:

Ehlers-Danlos syndrome may be diagnosed via:

  •     Clinical evaluation
  •     Diagnostic Tests
    Microscopic examination
  •     X-rays

Treatment Of Ehlers-Danlos Syndrome:

Ehlers-Danlos is not curable. However, supportive treatment is available:

  •     Medication
    ibuprofen (Advil, Motrin IB, others)
    naproxen sodium (Aleve)
    Blood pressure medications
  •     Physical therapy
  •     Surgery

By : Natural Health News

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