Ehlers Danlos Syndrome

The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the inability to correctly produce collagen and connective tissue proteins. The Ehlers-Danlos syndromes are currently classified into thirteen types. In all but the hypermobile subtype (hEDS) genetics variants have been identified as the cause for the disorder and are part of the diagnostic criteria. However, recently geneticists have discovered new data pointing towards the Hypermobile Gene!

Types of EDS

Classical

Classical Like

Cardiac-Valvular

Vascular

Hypermobile

Arthrochalasia

Dermatosparaxis

Kyphoscoliotic

Brittle Cornea Syndrome

Spondylodysplastic

Musculocontractual

Myopathic

Peridontal

Symptoms and Manifestations

Each persons disease will manifest in its own way, however these are the most common symptoms across all the subtypes of EDS.

Skin

  • Soft velvety-like skin

  • variable skin hyper-extensibility

  • fragile skin that tears or bruises easily

  • clots under the skin (hematoma)

  • severe scarring

  • slow and poor wound healing

  • development of molluscoid pseudo tumors 

Joints and Muscles

  • Joint pain (arthralgia) and deformity

  • Muscle pain (myalgia)

  • Nerve pain (neuralgia)

  • Loose/unstable joints

  • Frequent dislocations and/or subluxations and injury

  • Muscle tension and weakness

  • Weakness of the voice box and larynx

  • Hernias

  • Pelvic floor weakness and prolapses of the rectum, bladder or vaginal wall and uterus

  • Nerve disorders (neuropathy)

Comorbidities

Many other disorders are associated with EDS and in particular the hypermobile variant (hEDS). This is because the hypermobile type indicates laxity in any and all connective tissue, which is in turn used to build each organ system. Often people are diagnosed with these comorbidities before discovering they have Ehlers Danlos.

  • Gastroparesis

  • Postural Orthostatic Tachycardia Syndrome (POTS)

  • Mast Cell Activation Syndrome (MCAS)

  • Issues with bowel and bladder function

  • Dysautonomia, most common being inability to regulate body temperature, heart rate, and blood pressure

  • Autism

  • ADHD

  • Chronic Fatigue Syndrome

  • Multiple Sclerosis

  • Lupus

Prognosis and Outlook

While currently there is no cure for EDS, there are many preventative measures and life changes one can make to better suit your life and diagnosis. There can be a wide range of symptoms and concerns, and each person’s case will be different. The prognosis depends on the type of Ehlers-Danlos syndrome and the individual, as ones that can cause heart, organ or blood vessel rupture can be fatal.

Lifestyle Changes

  • Reduced time on feet

  • Diet changes to accomodate allergies

  • Rest Rest Rest

  • Hydration

  • Mobility Aids

  • Asking for Help

Upkeep of EDS

  • Physical Therapy

  • Strict diet

  • Occupational Therapy

  • Orthopedic Braces

  • Routine walking

  • Pain relief, ie. heating pads, ice packs, NSAIDs, etc.

Resources

While there are tons of informational sites out there on EDS and its subtypes, these are the on es that the Ehlers Danlos community has benefitted the most from. Truly these are the only sites I trust, and have ample information and other resources for you to scour through for hours, as I once did.

 https://www.ehlers-danlos.com/eds-hsd-community

The Ehlers-Danlos Society is dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). We support the development of effective and equitable EDS and HSD therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD.

https://www.ehlers-danlos.org/

We will support the EDS community by being bold, well-informed and focused.
We will use our personality to inspire change and benefit all those touched by EDS.
We will collaborate with others to educate and strengthen our voice.
We will always act with honesty and compassion.