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What is Ehlers-Danlos Syndrome?

EDS is an inherited connective tissue disorder which presents with a wide variety of symptoms which can affect health and quality of life.  Joint hypermobility, tissue fragility and pain are common features of EDS.

What Causes EDS? 

Changes in collagen protein 

Collagen is a protein that provides flexibility and strength to the body tissues. Gene changes cause abnormal production or maturation of collagen in the body which results in Ehlers-Danlos Syndrome. The abnormal gene can come from parents but can also occur for the first time in a person. These gene changes result in the formation of abnormal or weak collagen that is unable to support the body organs and other tissues.

Types of EDS 

There are 13 types of EDS. Hypermobile EDS (hEDS) is the most common type and is the only type that does not have a genetic mutation identified to cause it. Diagnosis is based on clinical assessment and internationally recognized diagnostic criteria. 

The other types of EDS are rare and can be identified with a genetic blood test when the minimal diagnostic criteria is met.

 

Generalized Hypermobility Spectrum Disorder (G-HSD) falls under the umbrella of EDS and presents with many of the same signs and symptoms as hEDS. There is no genetic mutation known to cause G-HSD.  

The Spectrum of Hypermobility

Hypermobility is a genetic trait and exists along a continuum. Hypermobility can be congenital (you are born with it) or acquired (developed over time) and can occur for many different reasons.

 

Joint hypermobility is not always secondary to an underlying connective tissue disorder. Hypermobility is common in the general population (approximately 10-40% of population) and can affect 1 to 2 joints (localized joint hypermobility) to multiple joints (generalized joint hypermobility).

Hypermobility may not lead to any symptoms (asymptomatic) or may lead to pain, early onset osteoarthritis and other musculoskeletal issues regardless of the cause of hypermobility. Physiotherapy and joint protection is currently the best method of treatment. 

Hypermobile EDS (hEDS)

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common type of EDS and causes generalized joint hypermobility, joint instability and chronic pain. 

hEDS accounts for about 90% of EDS cases and is thought to affect about 1 in 3100 to 1 in 5000 individuals. 

Every individual with hEDS has a unique set of symptoms and co-morbidities that may occur with this diagnosis. 

hEDS is managed by treating the individual health issues that each person has. A multidisciplinary team of various healthcare professionals is often required provide optimal care for patients with hEDS.

Common Signs and Symptoms of hEDS/G-HSD

Hypermobile Joints 

  • Joints easily move beyond the normal range of motion

Chronic Pain 

  • Generalized muscle and joint pains

  • Constant stiffness and spasms

  • Easy injury from minimal trauma leading to pain 

Abdominal Pain and Functional Gut Disorders 

  • Digestive disorders, nausea, heartburn, abdominal cramps and alternating diarrhea and constipation

Fatigue and Poor Sleep 

  • Extreme tiredness

  • Difficulty maintaining day to day activities such as work due to fatigue 

  • Problems falling and staying asleep

Joint Dislocations and Subluxations 

  • Joint comes completely out of its socket requiring active manipulation to put back in place

  • Joint slides in and out of the socket often not requiring manual manipulation to put back in place

Low Blood Pressure and POTS

  • Chronically low blood pressure or drop in blood pressure when standing (orthostatic hypotension)

  • Dizziness and sudden increase in heart rate after standing up

  • Fainting 

Allergies and Mast Cell Activation Disorder

  • Frequent rashes and severe allergic reactions since birth

  • Skin flushing and asthma-like symptoms

Mental Health Concerns 

  • Anxiety

  • Depression

  • Panic disorders 

Poor Healing, Stretchy skin and Bruising 

  • Fragile skin that tears or bruises easily – especially over the forehead and shin

  • Large skin bruises with minimal trauma that take more than 3 to 4 weeks to heal

  • Slow and poor wound healing that results in wide flat/depressed scars

  • Severe skin scarring and presence of several lumps on the body

Migraines and Headaches 

  • Chronic recurrent headaches and migraines

  • Headaches that resolve after lying down

Weak Pelvic Floor 

  • Desperate need to pass urine and urge to frequently pass urine multiple times throughout the day

  • Sensation of incomplete bladder emptying and decreased urine flow

  • Pelvic pains

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