Ehler- Danlos Syndrome ( EDS ) quick revision card

Ehler Danlos Syndromes - Genetic connective tissue disorders which affects collagen formation and function with clinical manifestations which include skin hyperelasticity , hypermobility of joints , atrophic scarring , fragility of blood vessels , abnormal wound healing. Inheritance may be autosomal dominant or autosomal recessive and a large majority may present as de-novo mutation. New International classification was published in 2017 which recognises 13 subtypes that are caused by pathogenic variants in 19 different genes which code for fibrillar collagens , collagen modifying proteins or processing enzymes( classification has evolved over time )

three subtypes ( classical EDS ie cEDS , vascular vEDS & molecularly unsolved hypermobile hEDS ) account for > 90 % of all cases of EDS in the UK - EDS National Diagnostic Service was commissioned in 2009 joint hypermobility is very common and thought to happen in 10 % to 30 % worldwide the best guess currently estimates the prevalence between 1 in 2500 to 1 in 5000

heritable mutation in collagen synthesis and / or processing ie the quality of collagen is affected in every part of body mutations affect the collagen which is integral to every body system from skin to the integrity of...