Learn More About EDS

EDS — Ehlers-Danlos Syndrome

  • Ehlers-Danlos Syndrome (EDS) is a rare genetic connective tissue disorder with 13 different subtypes to date. Due to the prevalence of connective tissues throughout the body, EDS can affect many different organ systems including the gastrointestinal system, nervous system, integumentary system, cardiovascular system, and more. EDS is most commonly identifiable by generalized joint hypermoblity, skin hyperextensability, and fragile tissues.

    EDS is rare, affecting just 0.02% of the population (statistics are from all 13 subtypes of EDS combined).

    EDS currently has 13 different subtypes including:

    • hypermobile EDS (hEDS)

    • Classical EDS (cEDS)

    • Classical-like EDS (clEDS)

    • Cardiac-valvular EDS (cvEDS)

    • Vascular EDS (vEDS)

    • Arthrochalasia EDS (aEDS)

    • Dermatosparaxis EDS (dEDS)

    • Kyphoscoliotic EDS (kEDS)

    • Brittle Cornea Syndrome (BCS)

    • Spondylodysplastic EDS (spEDS)

    • Musculocontractural EDS (mcEDS)

    • Myopathic EDS (mEDS)

    • Periodontal EDS (pEDS)

    The genes responsible for EDS in all the subtypes have been identified except for hEDS.

    A similar condition to hEDS is a condition known as Hypermobility Spectrum Disorder (HSD), a disorder also characterized by hypermobility. HSD differs from hEDS when it comes to diagnostic criteria, as diagnostic criteria becomes stricter when it comes to diagnosing hEDS as there is no genetic test for it yet. Even though EDS and HSD are separate conditions, several symptoms of the two conditions often overlap.

    EDS effects each person differently, with some experiencing mild symptoms and others experiencing severe and debilitating symptoms. Complications from vEDS can be life threatening while other types like hEDS can allow for a normal life expectancy.

    A phenomenon seen with EDS patients is the comorid conditions, especially Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS). The condition between these three conditions is still mainly unclear, although researchers have discovered mutations in ones genes that seem to be the connecting factor between EDS, POTS, and MCAS.

  • EDS has several symptoms that often differ from one person with EDS to another.

    common symptoms of EDS include:

    • joint hypermobility

    • fragile skin (breaks and bruises easily)

    • stretchy skin

    • unstable joints that dislocate

    • fatigue

    • GI dismotility

    • dizziness

    • nausea/vomiting

    • joint pain

    EDS often effects other organ systems by causing a variety of comorbid conditions and symptoms such as:

    • Postural Orthostatic Tachycardia Syndrome (POTS)

    • Gastroparesis (GP)

    • Mast Cell Activation Syndrome (MCAS)

    • Median Arcuate Ligament Syndrome (MALS)

    • Superior Mesenteric Artery Syndrome (SMAS)

    • Nutcracker Syndrome (NCS)

    • Chronic Fatigue

    • Fibromyalgia

    • Complex Regional Pain Syndrome (CRPS)

    • Small Fiber Sensory Neuropathy (SFSN)

    • Cervico-cranial instability

    • Generalized Anxiety Disorder

    A lot of these conditions are common with EDS due to loose and faulty connective tissues found all throughout the body.

  • Diagnostic criteria for EDS varies between each subtype, however, genetic testing plays a role in the diagnosis of all types except hEDS. Diagnosing hEDS consists of gathering a through patient history, evaluating symptoms, and comparing the patients symptoms to the hEDS diagnostic criteria.

    The other 12 subtypes of EDS also have a strict diagnostic criteria, however, a essential part of confirming the diagnosis of EDS consists of genetic testing which calls for identifying the specify gene mutation responsible for each type of EDS.

    The genes responsible for EDS are as follows:

    • Classical EDS (cEDS) — mutation in the COL5A1 or COL5A2 gene

    • Classical-like EDS (clEDS) — mutation in the TNXB gene

    • Cardiac-valvular EDS (cvEDS) — mutation in the COL1A2 gene

    • Vascular EDS (vEDS) — mutation in the COL3A1 or COL1A1 gene

    • Arthrochalasia EDS (aEDS) — mutation in the COL1A1 or COL1A2 gene

    • Dermatosparaxis EDS (dEDS) — mutation in the ADAMTS2 gene

    • Kyphoscoliotic EDS (kEDS) — mutation in the PLOD1 or FKBP14 gene

    • Brittle Cornea Syndrome (BCS) — mutation in the ZNF469 or PRDM5 gene

    • Spondylodysplastic EDS (spEDS) — mutation in the B4GALT7, B3GALT6, and SLC39A13 genes

    • Musculocontractural EDS (mcEDS) — mutation in the CHST14 or DSE gene

    • Myopathic EDS (mEDS) —mutation in the COL12A1 gene

    • Periodontal EDS (pEDS) — mutation in the C1R or C1S gene

  • Although there is no cure for Elhers-Danlos Syndrome there are treatments that can be used to help manage symptoms.

    Drug therapy:

    • Nonsteroidal anti-inflammatory drugs (NSAIDs)

    • Pain medications for pain management

    Other therapies:

    • Physical Therapy — to help strengthen muscles and help relieve joint pain

    • Occupational Therapy — to help teach patients how to adapt certain activities to reduce symptoms and pain

    • Psychological Therapy — to help patients cope with the emotional impact of their debilitating physical symptoms

    • Bracing/Splinting — to help joints from dislocating, reduce joint pain, and improve mobility

  • https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

    https://www.ehlers-danlos.com

    https://www.ehlers-danlos.org

    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/

    https://ehlersdanlosnews.com/prevalence-of-eds/