Ehlers-Danlos Syndrome

What is Ehlers-Danlos Syndrome? According to the Mayo Clinic, “Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls” (1). Connective tissue is a type of body tissue that connects and supports internal organs, forms the walls of blood vessels, bones, and attaches muscles to bones, and replaces tissues of other types following injury. Connective tissue is made predominantly of long fibers embedded in noncellular matter, the ground substance. Ground substance is the homogeneous substance in which the fibers and cells of connective tissue are embedded, it is also known as the clear portion of the cell cytoplasm. These fibers contain a protein called collagen, which, normally, is the most abundant protein in your body. Ehlers-Danlos syndrome can cause a deficiency in collagen. What are the symptoms of Ehlers-Danlos Syndrome? There are many varying symptoms based on the different subtypes, but the most common symptoms are:

• Hypermobile (extremely over flexible) joints. (Examples seen on the right)

• Unstable joints

• Soft “velvety” skin that is thin and easily stretched.

  • This can lead to abnormal/excessive scarring (“cigarette paper scars”)

  • This can also cause the skin to appear translucent, or have visible veins.

• Excessive bruising

• Excessive stretch marks without extreme weight gain or loss

• Chronic musculoskeletal (muscle and bone) pain

• Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)

• Osteoporosis (a condition that causes weak bones and increases a person's chances of breaking a bone from a fall.)

• Early onset osteoarthritis

• Scoliosis

• Postural Orthostatic Tachycardia Syndrome

What causes Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome is an inherited disorder. This means that in order to have Ehlers-Danlos syndrome a family member has to have passed on the gene to you. Many genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen. For many of these genes, it is not clear how mutations lead to hypermobility, elastic skin, and the other features of these conditions. However, at least 20 genes have been found to cause the Ehlers-Danlos syndromes. A few examples are that the classical type has been linked with mutation in the COL5A1 or COL5A2 gene, and (rarely) in the COL1A1 gene. In addition, the cardiac-valvular type, and occasionally cases of the arthrochalasia type, are caused by COL1A2 gene mutations. However, mutations in the COL1A1 gene have also been found in people with the arthrochalasia type. This is not an entirely comprehensive list; there are many forms of gene mutations that can cause Ehlers-Danlos syndrome. How common is Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome affects an estimated 1 in 5,000 individuals (0.02% of the population). The hypermobile type affects anywhere from 1 in 5,000 people (0.02%) to 1 in every 20,000 people (0.005% of the population). However, the classical type probably occurs in around 1 in 20,000 people (0.005% of the population) to 1 in 50,000 people (0.002% of the population). How is Ehlers-Danlos Syndrome diagnosed? To diagnose EDS, a doctor finds which EDS subtype your symptoms fit the criteria for. There are clinical criteria, available in the papers linked here, that can help guide diagnosis. Your signs and symptoms will be matched up to both the major and minor criteria in order to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including HSD, as well as a lot of variability between them. A definitive diagnosis of any EDS subtype (excluding hypermobile EDS (hEDS))—also calls for confirmation by testing to identify the responsible variant/mutation for the gene affected in each subtype. These tests can also help the individual with treatments like therapy and medication. In order to be diagnosed with hypermobile EDS (hEDS), you must meet 4≤ of the diagnostic criteria if you are over the age of 50, 5≤ of the diagnostic criteria if you are between puberty and age 50, and ≤6 if you are prepubescent. The criteria list can be found in PDF form here. How is Ehlers-Danlos Syndrome treated? The treatment for Ehlers-Danlos syndrome depends upon the severity of the condition and its complications, as well as on the health and age of the patient. Surgery can improve quality of life, and a medical team will recommend surgery for life-altering EDS issues. Two examples of surgical procedures done on patients with severe Ehlers-Danlos syndrome include Minimally Invasive Lumbar Fusion (fuses the bones of the spine in the lower back together so that there is no longer any motion between them), and a Laminectomy (relieving pressure on the nerve roots. This procedure involves removing part of the vertebra bone called the lamina in order to access the disk). However, most Ehlers-Danlos patients are treated with personalized forms of physical/exercise therapy and medications. In addition, many people with Ehlers-Danlos syndrome use things like braces in order to stabilize their joints. This is not an extensive list, as there are around 13 known subtypes, and the severity/impact on everyday life and health varies from person to person. How does Ehlers-Danlos Syndrome affect a person long-term? The first question usually asked is how Ehlers-Danlos syndrome affects an individual’s life expectancy. For most types of Ehlers-Danlos syndrome, the life expectancy is that of the average person; however, there are two types of Ehlers-Danlos syndrome that can reduce someone's life expectancy. Vascular Ehlers-Danlos syndrome can severely reduce an individual’s life expectancy; most people with the condition have a major event by age 40. The median life expectancy for someone diagnosed with Vascular type Ehlers-Danlos syndrome is around 48. The other type of Ehlers Danlos syndrome that can reduce life expectancy is kyphoscoliotic EDS, but the exact age is unknown. Complications associated with Ehlers-Danlos syndrome include postural orthostatic tachycardia syndrome (PoTS), scoliosis, organ ruptures, constant dislocations/twists in joints and limbs, and early onset osteoarthritis. In pregnancy Ehlers-Danlos syndrome can cause obstetric and gynecologic complications, and in many women or AFAB (assigned female at birth) individuals’ EDS symptoms worsen after menopause. Ehlers-Danlos syndrome is a chronic condition, but with treatments like exercise/physical therapy, medications, and specialized treatment it can be manageable. Since Ehlers-Danlos syndrome is a genetic condition/mutation, there is not currently a cure. Sources https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125 https://medical-dictionary.thefreedictionary.com/connective+tissue https://metabolichealing.com/hyper-joint-mobility-eds-collagen-histamine-cirs-implications/ https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/ https://www.ehlers-danlos.com/2017-eds-international-classification/#article https://www.ehlers-danlos.com/eds-diagnostics/ https://ehlersdanlosnews.com/dermatosparaxis-eds/ https://edsinfo.wordpress.com/2016/03/09/the-long-term-effects-of-untreated-chronic-pain/ https://www.thesun.co.uk/fabulous/5978417/ehlers-danlos-syndromes-life-expectancydisorder-joint-hypermobility-disorder/ https://www.ehlers-danlos.org/information/kyphoscoliotic-ehlers-danlos-syndrome/ https://www.healthline.com/health/ehlers-danlos-syndrome https://www.ehlers-danlos.com/eds-types/ https://ehlersdanlosnews.com/2020/02/13/will-eds-affect-my-life-expectancy/ https://www.thesun.co.uk/fabulous/5978417/ehlers-danlos-syndromes-life-expectancydisorder-joint-hypermobility-disorder/ https://www.ehlers-danlos.com/heds-diagnostic-checklist/ https://www.ehlers-danlos.com/wp-content/uploads/hEDS-Dx-Criteria-checklist-1-Fillable-form.pdf https://www.cdc.gov/arthritis/basics/osteoarthritis.htm https://www.ehlers-danlos.com/pdf/MEDICAL-PAPERS/hEDS-during-pregnancy-birth-beyond-bjom.2018.26.4.217.pdf