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Do you know what Ehlers-Danlos Syndrome is?

HWC team
January02/ 2017

Ehlers-Danlos syndrome (EDS) is an inherited disorder that primarily affects your connective tissues, skin, joints and blood vessel wall. The connective tissues are responsible for structuring the skin, blood vessels and bones.

Connective tissues are made up of cells, fibrous material and collagen protein. Ehlers-Danlos syndrome is caused due to the defects in protein called collagen. Defects in collagen is caused due to a group of genetic disorders.

Ehlers – Danlos Syndrome Types

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that is caused by a number of defects in the synthesis of collagen. Ehlers-Danlos syndrome (EDS) affects both men and women. There are 6 types Ehlers-Danlos syndrome (EDS), each type involves a unique defect in connective tissue.

  1. Hypermobility Type

Hypermobility type mainly affects the large and small joints. During the join hypermobility, certain joints dislocate frequently and in few severe cases the skin bruises also become visible and the bruising is variable in severity. Joint hypermobility is inherited in an autosomal manner.

  1. Classical type

Classic type is recognised by marked skin hyperextensibility along with atrophic scars and joint hypermobility. The visible symptoms appear on your skin that range in severity from mild to severe. Your skin generally becomes more fragile and has a tendency to bruise easily.

  1. Vascular Type

Vascular type of Ehlers-Danlos syndrome is one of the most serious types. Vascular type can result in arterial or organ rupture. During this diseased condition, the skin becomes thin and translucent and results in making veins visible through the skin. The veins are more prominently visible in the chest and abdominal region.

Vascular type can also lead to changes in facial features that include: large eyes, thin nose and lobeless ears.  Changes in facial feature also include thin scalp hair and short stature. In severe cases, minor trauma during this condition can cause extensive bruising.

  1. Kyphoscoliosis Type

Kyphoscoliosis is also called as EDS type VI which is characterized by severe muscle hypotonia and generalized joint laxity at the time of birth. Delayed gross motor development results due to muscular hypotonia. Tissue fragility and atrophic scars are common during kyphoscoliosis type.

  1. Arthrochalasia Type

Arthrochalasia type is characterized by the congenital hip dislocation, skin hyperextensibility and tissue fragility and muscle hypotonia. Mild osteopenia is also seen in few rare cases.

  1. Dermatosparaxis Type

While suffering with dermatosparaxis type EDS, you will experience severe skin fragility and substantial bruising. The common symptoms during this condition include: sagging, redundant skin, soft and doughy skin texture.

Causes of Ehlers-Danlos syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is an inherited condition that occurs due to spontaneous gene mutations. Defects in certain genes can result in Ehlers-Danlos syndrome (EDS). Defect in genes can slow down the process of formation of collagen.  The common genes that undergo mutations during Ehlers-Danlos syndrome (EDS) are:

  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL6A2
  • PLOD1
  • TNXB

Symptoms of Ehlers-Danlos Syndrome (EDS)

Generally parents carry these defective genes and do not show any visible symptoms. The most common symptoms seen in Ehlers-Danlos syndrome are:

  • Extreme flexible joints
  • Stretchy skin
  • Fragile skin
  • Skin bruising
  • Muscle fatigue
  • Muscle pain

When you experience any of the above mentioned symptoms, you must consult the doctor to avoid any severe complications. This kind of diseases can be cured on early diagnosis and treatment. Get yourself diagnosed during pregnancy to prevent your baby from inherited diseases that can be transferred to your baby in the womb.

HWC team

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