Ehlers-Danlos Syndrome

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is characterized by unusually flexible joints and excessively stretchy and delicate skin. It is a hereditary connective tissue disorder with six distinct subtypes and rare variants.

Each subclass has a unique host of problems, but they all modify the structure of collagen in various parts of the body. Hypermobile Ehlers-Danlos is the most common, but all types equally affect females and males of all ethnicities. EDS cannot be prevented or cured.

What are the Symptoms of Ehlers-Danlos Syndrome?

The symptoms of Ehlers-Danlos vary according to sub-type.

Sub-type symptoms include

Hypermobile

  • Frequent dislocations of small and large joints
  • Joint hypermobility
  • Easy bruising
  • Unusually soft and smooth skin and/or usually stretchy skin
  • Chronic pain
  • Muscle spasms
  • Neuropathy
  • Degenerative arthritis

Classical

  • Unusually stretchy skin
  • Joint hypermobility
  • Abnormally soft and smooth skin
  • Atrophic (sunken) scarring at pressure points (e.g., knees, elbows, forehead)
  • Calcified hematomas (molluscoid pseudo tumors) on elbows
  • Fatty cysts (spheroids) on shins and forearms
  • Delayed gross motor skills in children

Dermatosparaxis

  • Extremely fragile skin
  • Severe bruising
  • Unusually soft dough-like skin
  • Sagging skin
  • Large hernias

Vascular

  • Thin translucent skin with highly apparent veins
  • Thin hair
  • Short stature
  • Lack of earlobes
  • Unusually large eyes
  • Narrow nose
  • Easy bruising
  • Joint hypermobility (mostly in the fingers)
  • Clubfoot at birth
  • Prematurely aging skin of the feet and hands
  • Receding gums
  • Varicose veins that begin at an unusually young age

Arthrochalasia

  • Hip dislocation (genetic)
  • Extreme joint hypermobility
  • Unusually stretchy skin
  • Delicate skin
  • Easy bruising
  • Weak muscles
  • Spinal deformity (kyphoscoliosis)
  • Low bone density (osteopenia)

Kyphoscoliosis

  • Weak muscles and joints at birth
  • Delays in gross motor development in children
  • Progressively worsening scoliosis from birth
  • Inability to walk after reaching the 20’s or 30’s

Additional symptoms include

  • Eye rupture
  • Unusually fragile skin
  • Atrophic (sunken) scarring
  • Features similar to those with Marfan’s syndrome
  • Unusually small corneas
  • Low bone density (osteopenia)

Ehlers-Danlos Syndrome Causes

Ehlers-Danlos syndrome is the result of genetic mutations which manifests as 13 different subtypes, known as classical types, hypermobility types, kyphoscoliotic form, and vascular types, all of which have different genetic drivers. Both autosomal dominant and autosomal recessive genetic factors are responsible for Ehlers-Danlos syndrome. In autosomal dominant conditions, only one copy of the gene is necessary from the parents to pass on the condition and the child has a 50% of inheriting Ehlers-Danlos syndrome. In autosomal recessive conditions, both parents must have a copy of the responsible gene and the child has a 25% of developing Ehlers-Danlos syndrome.

The most common types of Ehlers-Danlos syndrome are autosomal dominant. Mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A2, PLUD1, and TNXB have been identified as drivers of Ehlers-Danlos syndrome, among others such as mutations in the LH1 gene. In autosomal recessive Ehlers-Danlos syndrome, some instances are characterized by mutations in the LH1 gene and up to 20 have been identified. However, it is noted that in types I and II of Ehlers-Danlos syndrome, which are known as classical types, it has been difficult to fully determine the genetic drivers. However, in autosomal dominant Ehlers-Danlos syndrome, COL5A1 and COL5A2 have been noted to be associated.

How is Ehlers-Danlos Syndrome Treated?

The treatment of Ehlers-Danlos syndrome involves managing symptoms and preventing injuries.

Treatment includes

  • Pain medication
  • Medication to lower high blood pressure, if necessary
  • Physical therapy to strength muscles for better joint stability
  • Braces to prevent dislocated joints
  • Surgical repair of damaged joints
  • Avoidance of potentially damaging physical activities

Ehlers-Danlos Syndrome Prevention

Since Ehlers-Danlos syndrome is genetically mediated, it is not possible to prevent. However, as with many genetic disorders, monitoring and genetic testing can help predict the presence of the responsible genetic mutations. Additionally, consultation with a genetic counselor can help determine the risk of passing on Ehlers-Danlos syndrome based on the genetic subtype. Using genetic testing and counseling to determine whether there is the presence of autosomal dominant or autosomal recessive can help make decisions on how to best plan and understand the risk in future generations.

Resources
Last Reviewed:
September 20, 2016
Last Updated:
December 19, 2017