Ehlers Danlos Syndrome

Patient Education

What is Ehler Danlos Syndrome?

Ehler Danlos Syndrome (EDS) is a genetic problem where the protein “collagen” (pronounced as coal-aa-gen) is abnormal. Collaged is present in various tissues of the body such as skin, bones, muscles, ligaments, and blood vessels. Due to abnormal collagen, the patient would have lax skin, loose joints, and delayed teething.

What are the various types of Ehler Danlos syndrome?

The syndrome is divided into 10 types depending upon the tissue involved and its clinical presentation.

Type I - Gravis form - It is the most common and most severe of all the types. Skin hyperelasticity and frequent joint dislocations along with lax joints are present. Bony deformities and spine deformities are common.

Type II - Mitis form - It is similar to type I but less severe in form. Fingers and toes may be the only sites affected.

Type III - this type mostly involves the joints. It can cause orthopedic problems (arthritis) in the long term.

Type IV - It is the arterial from affecting blood vessels. It is relatively less common. The outcome of patients affected by this type is poor.

Type V - This involves the skin and joints but bruising and excessively lax joints are rare.

Type VI - Along with the skin and joints, it also involves the eyes.

Type VII - Also called as Arthrochalasis multiplex congenital and mainly affects the joints. Patients are also short in stature.

Type VIII - This type is relatively rare and affects the teeth.

Type IX - This is similar to another genetic disorder called ‘Menke’s Disease’. Along with poor wound healing, chronic diarrhea and Blood pressure changes on lying down are common.

Type X - Extremely rare form of EDS. It is characterized by ‘fibronectin’ deficiency (fibronectin helps to bind collagen)

The above classification has been revised and patients are grouped into 6 broad groups depending upon the tissue involved.

  • The classic type was formerly typing I and II.
  • Hypermobility type was formerly typing III.
  • The vascular type was formerly typing IV.
  • Kyphoscoliosis type was formerly typing VI.
  • Arthrochalasis type was formerly typing VII
  • The Dermatosparaxis type was formerly typing VII.

The other was formerly typed V, VIII, IX, X, and XI.

Vascular EDS is the most severe form characterized by spontaneous rupture of the arteries or perforation of internal organs resulting in death.

How common is Ehler Danlos syndrome?

EDS is extremely rare with a prevalence of about 1 in 400,000 people. However, Ehler Danlos syndrome is often under-diagnosed.

What are the symptoms of Ehler Danlos Syndrome?

Patients with Ehler Danlos syndrome can present with the following symptoms:

  • Frequent falls and difficulty walking
  • Easy bruising, Joint pain, frequent joint dislocations
  • Loose and lax joints
  • Dental problems such as delayed eruption, poor teeth formation
  • Abnormal curvature of the spine called as kyphoscoliosis
  • Skin manifestations - doughy skin with the underlying vessels visible on the surface, hyperelastic skin, cigarette paper like scars with poor wound healing
  • Heart problems such as prolapse of valves and aneurysms (thinning of arterial walls causing them to balloon and pose a threat of rupture)
  • Eye involvement - bleeding in retina, retinal detachment, glaucoma (increased pressure in the eye) and coloration of the sclera (sclera is the white part of the eye which looks colored in EDS).

How is Ehler Danlos syndrome diagnosed?

Your pediatrician may suspect Ehler Danlos syndrome based on clinical symptoms. A genetic test can be used to diagnose the condition. Your doctor may also advise additional tests such as echocardiography and skin biopsy to make the diagnosis. Other diseases similar to EDS are cutis laxa, Marfans syndrome, Pseudoxanthoma Elasticum, and Menke’s disease.

What is the treatment of Ehler Danlos syndrome?

Treatment of EDS is mainly supportive. Physiotherapy and orthotics are useful. Surgical management for repeated joint subluxation aims at stabilization and pain reduction. Patients are advised to avoid contact sports.

I have one child with Ehler Danlos syndrome. Is it possible that my next child will also get it?

Prenatal Diagnosis is possible by genetic studies and the outcome of the pregnancy can be predicted by measurement of LH (lysyl hydroxylase) levels (for type VI)

Ehlers Danlos Syndrome Ehlers Danlos Syndrome 2015-08-01
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