An Introduction to the Ehlers Danlos Syndromes

Written & Researched by Ainsley Johnson



Ehlers Danlos Syndromes


EDS is an umbrella term encompassing thirteen unique subcategories and presentations. The disorders are characterized by faulty collagen, which affects the health and stability of joints, skin, blood vessels, and other body systems and structures.



What is Collagen?


Collagen is a protein that comprises connective tissues. Collagen proteins make up our tendons, organs, cartilage, skin, and bones. It keeps our bodies structurally sound, acting like glue that holds everything together.



Signs and Symptoms:


In Ehlers Danlos Syndrome, any identified genetic mutations associated with the condition cause a patient’s body to produce faulty collagen, replacing this essential molecule with a weaker version among the skeletal system, integumentary system, and internal organs. Because collagen promotes structural integrity in our cartilage, individuals affected by Ehlers Danlos Syndrome are often excessively flexible, and many experience frequent dislocations and subluxations of various joints. Their skin is often stretchy and fragile, and wounds may take longer than average to heal. Additionally, depending on which mutation a person possesses, fragile blood vessels, abnormal scars, aortic defects, orthostatic intolerance, organ rupture, corneal and scleral fragility, and muscle weakness are among the many potential symptoms patients may experience during their lives.



The Ehlers Danlos Syndromes:


hEDS - Hypermobile Ehlers Danlos, affecting an estimated 1 in 10,000 individuals, is

characterized by frequent joint dislocation and subluxation, problems with the autonomic nervous system, gastrointestinal issues, and more.

cEDS - Classical Ehlers Danlos, affecting an estimated 1 in 20,000 individuals, is characterized by stretchy skin, blood vessel fragility, joint dislocation and subluxation, abnormal scarring, and more.


vEDS - Vascular Ehlers Danlos, affecting fewer than 1 in 200,000 individuals, is characterized by hernia and pneumothorax in childhood, flexibility of the small joints, advanced aging of the skin on the hands and feet, and potential organ or arterial rupture later in life. vEDS is the subtype associated with a higher risk of early loss of life. Rarer subtypes include clEDS, cvEDS, aEDS, dEDS, kEDS, spEDS, mcEDS, mEDS, pEDS, and BCS.



Diagnosis:


A genetic mutation in a gene that codes for or relates to collagen production is responsible for EDS. These genes include COL5A1, COL3A1, COL5A2, and TNXB, among many others. Most cases result from an inherited mutation passed down from one or both parents in either autosomal dominant or autosomal recessive patterns. In some instances, however, spontaneous (de novo) mutations occur. If EDS is suspected, genetic testing is necessary to establish a diagnosis; in the case of hEDS, whose gene(s) are unknown, a thorough list of criteria determines a clinical diagnosis. For more common subtypes, patients may be diagnosed in teenagerhood or adulthood after their symptoms begin to interfere with their lives. In rarer subtypes, complications are usually immediately evident; for this reason, genetic testing can identify mutations much earlier. If both parents carry the same mutation, the chance of having a child affected by Ehlers Danlos Syndrome is 25%.



Treatment:


There are currently no curative treatment options available to patients affected by an Ehlers Danlos Syndrome. A patient’s health is stabilized and maintained through individually treating symptoms as they arise. Management often involves medications to manage pain; mobility aids and braces to increase independence; surgeries as required to repair organs, blood vessels, and joints; and lifestyle practices that promote good health. Protecting oneself from potentially

harmful activities such as contact sports and strenuous activities minimizes potential damage to joints and other body systems.



Conclusions:


Most patients affected by an Ehlers Danlos Syndrome go on to live long, fulfilling lives. Individuals with EDS take care of themselves by monitoring their symptoms and limitations, avoiding activities that pose the risk of harm, and staying on top of their symptom management. Although the vEDS and kEDS subtypes may reduce life expectancy, reducing the risk of severe complications can potentially allow individuals to live longer with fewer life-limiting symptoms.



References:

“Ehlers-Danlos Syndromes.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes.


“Ehlers-Danlos Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and

Research, 16 Oct. 2020, www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125.


“Ehlers Danlos Syndromes.” NORD (National Organization for Rare Disorders), 9 Oct. 2020, rarediseases.org/rare-diseases/ehlers-danlos-syndrome/.


Byers, Peter H. “Vascular Ehlers-Danlos Syndrome.” GeneReviews® [Internet]., U.S. National Library of Medicine, 21 Feb. 2019, www.ncbi.nlm.nih.gov/books/NBK1494/.


“Collagen and Your Body: What to Know.” WebMD, WebMD, 22 Jan. 2020,

www.webmd.com/skin-problems-and-treatments/ss/slideshow-collagen-and-your-body.

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