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About Rare DiseasesRare Disease Wiki

Ehlers-Danlos Syndrome (EDS)

Name of disease:

Ehlers-Danlos Syndrome (EDS)

ICD-10 diagnosis code:

Q79.6

Causes:

  • Collagen is a primary component of connective tissue which provides support, protection, and structure to other parts of the body. There are different types of collagens with different functions. EDS is caused by changes in the genes that affect the structure and function of collagen and related connective tissue proteins.
  • Each type of EDS is caused by variants in specific genes that provide the instructions for making collagens and related proteins.
  • Some types of EDS are associated with multiple different genes.

Mode of inheritance:

  • EDS can be passed on from parent to child. Each type of EDS is inherited in either a dominant or recessive inheritance pattern.
  • A dominant inheritance pattern means that just one copy of a genetic variant (passed down from one parent) is needed to inherit the condition. If a person has a condition with a dominant inheritance pattern, each of their children will have a 50% chance of inheriting the condition.
  • A recessive inheritance pattern means that a person must inherit two copies of the genetic variant (one from each parent) in order to develop the condition.

Prevalence:

  • Each type of EDS has a different prevalence in the population in the US.
  • Hypermobile (hEDS) is the most common type of EDS by far and accounts for about 90% of EDS cases.
  • hEDS is thought to affect at least 1 in 3100 - 5000 people in the US.

Diagnosis:

Each type of EDS has its own clinical diagnostic criteria. If a person meets the diagnostic criteria for a type of EDS, a genetic test should be done to confirm the diagnosis.

Age of onset:

Age of onset for patients with Ehlers-Danlos syndrome can vary depending on disease subtype. In patients with hypermobile Ehlers-Danlos syndrome, age of onset can be as early as adolescence or as late as the 5th or 6th decade of life.

Common signs and symptoms:

  • An increased range of joint movement (joint hypermobility)
  • Stretchy skin
  • Fragile skin that breaks or bruises easily
  • Pain
  • Fatigue

Available treatment (medicinal and non-medicinal):

There is no specific treatment for EDS, but it is possible to manage many of the symptoms with support and advice. For example:
  • A physiotherapist can teach patients exercises to help strengthen their joints, avoid injuries, and manage pain.
  • An occupational therapist can help patients manage daily activities and give advice on equipment that may help.
  • Counselling and cognitive behavioural therapy may be useful if patients are struggling to cope with long-term pain.
  • For certain types of EDS, regular scans carried out in hospital can detect problems with internal organs.

Disease management tips:

  • Wearing sunscreen and using mild soaps to protect the skin
  • Wearing braces for extra joint support
  • Avoid heavy lifting, high-impact exercise, and contact sports

References:

Other useful websites:

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