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Ehlers-Danlos Syndrome – Causes and Symptoms of Ehlers-Danlos Syndrome

About Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a combination of genetical disorders that is inherited. This syndrome generally affects connective tissues of joints, skin, organs and blood vessel walls. Connective tissue defects cause the symptoms and signs of Ehlers-Danlos Syndrome, that vary from mild loose joints to life-threatening conditions.

In this syndrome, the production of collagen, a component of connective tissue is disrupted due to genetic mutations. Doctors identified that the symptoms mostly affect skin and joints of the person affected with this syndrome.

Causes of Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is caused by a variety of genetic alterations. This syndrome is passed on from generation to generation. The normal production of collagen is disrupted. Collagen is a fiber protein that gives elasticity and strength to connective tissues of skin, ligaments, tendons, cartilage, blood vessels and organs.

The normal enzyme activity of a gene is altered due to sudden changes occurring in the genes. This alteration makes the connective tissue weak and unstable.

Symptoms of Ehlers-Danlos Syndrome
Based on the type symptoms, Ehlers-Danlos Syndrome is divided into main five types.
Type I and II EDS– Classical type that affects about 1 in 10,000 to 20,000 people. The symptoms are:

  • Fragile skin
  • Loose joints
  • Skin folds on eyelids
  • Highly elastic skin
  • Non-cancerous fibrous growths on knees and elbows
  • Poor and slow wound healing leading to scar marks
  • Heart valve problems
  • Muscle pain and fatigue

Type III EDS – Hypermobility type that affects about 1 in 10,000 to 15.000 people. The symptoms are:

  • Bruises occur easily
  • Loose and unstable joints
  • Chronic degenerative disease
  • Muscle pain and fatigue
  • Heart valve problems

Type IV EDS – Vascular type is a rare syndrome. It affects about 1 in 100,000 to 200,000 people. The signs and symptoms are:

  • Translucent and thin skin
  • Fragile organs and blood vessels prone to rupture
  • Protruding eyes, small chin, thin nose and lips and sunken chin
  • Heart valve problems

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