What are the Ehlers-Danlos Syndromes?

Ehlers-Danlos Syndromes (EDS) is a group of 13 inherited connective tissue disorders caused by different genetic defects in collagen. Each subtype has a different clinical manifestation and genetic cause. The subtypes can impact different types of connective tissue and result in a varied impact on the body. There are some symptoms that are common across many of the different subtypes which can include generalised joint hypermobility "double-jointed", and skin issues including stretchy or fragile skin. 

It is believed the discovery of EDS through medical descriptions can be seen all the way back to the fourth century BC. With the first clinical description credited to Tschernogobow in 1982. The name Ehlers came later from Edward Ehlers who was a Danish Dermatologist, and Henri-Alexandre Danlos who was a French physician. Both wrote reports in 1901 and 1908 separately and then collaborates to create the description of EDS [1]. Over time more subtypes were identified with the six EDS phenotypes discovered in 1997-1998 which were the classical, hypermobile, vascular, kyphotic, arthrochalsia, and dermatosparaxis [2].

There are now 13 subtypes diagnostic criteria as of 2017 as per the International Diagnostic Criteria by Malfait el al [2]. Of all the EDS types combined the prevalence is estimated at around 1 in 5000 which classifies it as a rare disease/disorder. Of the 13 types, the Hypermobile (hEDS) and Classic (cEDS) are the most common type diagnosed. Some types, vascular, kyphotic, arthrochalsia, and dermatosparaxis are exceedingly rare with only a few cases noted. Vascular type is quite rare affecting only 1 in 250,000 [3]

As there is a wide range of EDS types there is a wide variety of symptoms, Each type of EDS has the potential for disability and negative impact on the quality of life in some individuals. Some symptoms that are seen commonly include, but are not limited to:

  • Soft velvety-like skin

  • Skin hyper-extensibility

  • Fragile skin

  • Poor wound healing

  • hypertrophic scars

  • Easy bruising

  • Joint subluxation/dislocations

  • Generalised Joint Hypermobility

  • Musculoskeletal pain

  • Muscle Weakness

  • Autonomic Dysfunction

  • Fatigue

  • Chronic Pain

  • Cognitive Impairments

  • Clumsiness/Poor coordination

*These are general symptoms and do not constitute requirements for diagnosis. 

EDS has been associated with several co-morbid conditions including (but not limited to)

References: 

[1] Steiner RD. Ehlers-Danlos Syndrome. http://emedicine.medscape.com/article/943567-overview (Accessed Feb 15, 2010).

[2] Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M. The 2017 international classification of the Ehlers–Danlos syndromes. in American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 8-26).

[3] https://www.physio-pedia.com/Ehlers-Danlos_Syndrome