Ehlers Danlos Syndrome

Ehlers Danlos syndrome (EDS) refers to a rare group of genetic conditions that adversely affect varied connective tissues, especially skin, blood vessel, and joints tissues. EDS associated genetic errors trigger problems in collagen production. It may be noted that collagen is one of the primary elements of connective tissues.

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There are many types of Ehlers Danlos syndrome and each one is identified by unique and different symptoms. All the types however cause problems in the joints, skin, and other body areas. Patients do not experience any mental issues, but physical work may be restricted due to EDS-linked complications.

Types of Ehlers Danlos syndrome (symptoms)

Stretchy and fragile skin and flexible and loose joints are the most common symptoms of Ehlers Danlos syndrome. However, bendy and wobbly may not always be a sign of EDS as it can occur in healthy people too.

Ehlers Danlos syndrome is classified into many different types as per the accompanying signs and symptoms. Listed below are the most common types of EDS along with accompanying symptoms:

  1. Classical Type EDS

This type of Ehlers Danlos syndrome consists of EDS types that were previously categorized as Type I & II. It is observed in about 1 in 10,000 to 20,200 individuals. Patients with classical type EDS may suffer from below listed symptoms:

  • Muscle ache, muscle pain
  • Unstable, wobbly joints
  • Muscle fatigue
  • Fragile skin prone to easy bruising and tearing
  • Development of fatty abnormal growths on lower arms and shins
  • Very smooth, abnormally stretchy, and silky skin
  • Slow and poor healing of wounds marked by extensive scarring
  • Occurrence of anomalous skin folds or creases; for e.g., the eyelids may develop skin folds
  • Different kinds of heart valve abnormalities, including aortic root dilation and/or mitral valve displacement
  • Knees, elbows, and other pressure areas may develop fibrous benign abnormal growths
  1. Hypermobility Type EDS

This type of Ehlers Danlos syndrome consists of EDS type that was previously categorized as Type III. It is observed in about 1 in 9,700 to 15,050 individuals. Patients with hypermobility type EDS may suffer from below listed symptoms:

  • Easy bruising
  • Muscle pain, muscle ache, muscle fatigue
  • Chronic joint degeneration conditions
  • Aortic root dilation, mitral valve prolapsed, and other heart valve problems
  • Unstable, loose, and bendy joints; there may be dislocation of joints at several locations
  • Early onset of severe or advanced stage osteoarthritis accompanied by persistent pain
  1. Vascular Type EDS

This type of Ehlers Danlos syndrome consists of EDS type that was previously categorized as Type IV. It is observed in about 1 in 101,050 to 201,050 individuals and is thus very uncommon. The most severe health problems are caused by this type of EDS.

Patients with vascular type EDS may suffer from below listed symptoms:

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  • Nearly transparent or translucent and very thin skin
  • Easy bruising
  • Unique and distinct facial features; the nose and lips are thin, bulging eyes may be present, chin and jaw are small, and cheeks are sunken/depressed
  • Collapsed lung
  • Mitral valve displacement and other heart valve anomalies
  • Fragile organs, including delicate blood vessels that tend to easily rupture or tear
  1. Other types of EDS
  • Other types of Ehlers Danlos syndrome are rare and have been diagnosed only in some families. Also, research is still ongoing about the different aspects of certain listed forms of EDS, while many types do not have a clear definition as yet.


  • Ehlers Danlos syndrome is a genetic disorder and each type of EDS is caused due to genetic mutations that alter normal production of collagen. It may be noted that collagen is a form of fibrous protein which gives the connective tissues of skin, blood vessels, ligaments, organs, tendons, and cartilage, etc., its elasticity and power. Genetic errors associated with EDS adversely affect the enzyme activities and cause unsteadiness and fragility of connective tissues.
  • Genetic errors get passed down generations and the risk of inheriting EDS-related genetic mutation is about fifty percent. Most cases of Ehlers Danlos syndrome follow an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene passed on from either the father or mother is sufficient for the child to develop the complications and anomalous symptoms linked to EDS.


There is no cure for EDS. Treatment of the condition is aimed at alleviation of symptoms and prevention of health complications.

Some treatment options and self-care guidelines for Ehlers Danlos syndrome are mentioned below:

  • Muscle and joint pain and aches, muscle fatigue, etc., can be eased with topical anesthetics, non-steroidal anti-inflammatory drugs, and other medicines
  • A qualified therapist will provide physical therapy. Patients will need to perform certain types of exercises that make the muscles stronger without causing any damage or harm or worsening the symptoms. The exercises not only help alleviate muscle pain and aches, but also increased stability and balance of joints.
  • Very loose, wobbly, and unstable joints may be provided support via specialized braces
  • Repeated displacement of joints may require surgical treatment. However, healing and recovery after surgery is slow, prolonged, and problematic in Ehlers Danlos syndrome patients. Hence, surgery is often the last treatment option for correction of the adverse symptoms.

Self-care measures to prevent damage to affected joints, skin, etc., are as follows:

  • Ensure a clutter free home to prevent falls-related injuries
  • Padding and other joint protecting tools may be used for infants learning to walk
  • Using jar openers, combs with long handles, and other assistive gadgets can help reduce strain on joints
  • Strenuous activities and sports need to be avoided as they can cause injuries
  • Use of sunscreen, mild soaps, etc., can help prevent damage of delicate skin

Life Expectancy of Ehlers Danlos syndrome patients

  • Every instance of Ehlers Danlos syndrome is distinct. Hence, prognosis and life expectancy of patients also differ and are often based on the type of EDS.
  • People with vascular type EDS may have a shorter life expectancy because of elevated risk of sudden tearing of blood vessels, etc. Rupture of arteries typically occurs when patients are 20-30 years old, but it can also happen at any age. This type of EDS comes with an average life expectancy of around 48-50 years.
  • Pregnancy can be life-threatening in women with classical and vascular type EDS.


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