The most common symptom across most types of EDS is joint hypermobility to different degrees on a spectrum. And underlying connective tissue abnormalities. The most common types of EDS are outlined below.
Many things about the multi-and cross-systematic symptoms of Hypermobile EDS (hEDS)make it very difficult to diagnose despite it being the most common type. It can present very differently from person to person, change over time, and vary in severity.
There are many symptoms common to hEDS, including those on the list below as a starting point:
- Joint instability, hyper-extensions, subluxations, and dislocations
- History of musculoskeletal problems and injuries
- Chronic pain
- Chronic fatigue
- Cardiovascular problems
- Skin that is stretchier or softer than normal
- Obstetrics and gynecological issues with the pelvic floor
- Easily bruised
- Poor wound healing
- Flat feet or fallen arches
- Bladder issues
- Abnormal scarring
- Poor proprioception
- Dental issues
- Allergies and/or mast cell abnormalities
- Autoimmunity
- Scoliosis
- Varicose veins
The Bendy Bodies Podcast featured how to recognize the signs of hypermobility in this episode with Kate Colbert and Dr. Linda Bluestein.
Hypermobile Ehlers-Danlos Syndrome (hEDS) is marked by a variety of symptoms, primarily affecting the joints and skin. Here are some of the most common symptoms to watch for:
- Generalized Joint Hypermobility: Excessive flexibility in multiple joints, often leading to frequent joint dislocations and subluxations.
- Chronic Pain: Persistent pain in the joints and muscles, which can be severe and often increases with activity.
- Skin Hyperextensibility: Skin that stretches more than usual and snaps back into place quickly.
- Chronic Fatigue: Ongoing, profound tiredness that doesn’t improve with rest.
- Gastrointestinal Issues: Problems such as gastroesophageal reflux, irritable bowel syndrome, and other digestive difficulties.
- Dysautonomia: Dysregulation of the autonomic nervous system, which can manifest as abnormal heart rate, blood pressure fluctuations, and temperature regulation issues.
- Mild Skin Fragility: Tendency to bruise easily and have minor wounds heal poorly.
- Joint Instability: Joints that are loose and prone to sprain, strain, or dislocate easily.
- Propensity for Early Onset Osteoarthritis: Degenerative joint disease that can start at a younger age than typically seen in the general population.
Classical EDS (cEDS)
- Highly Elastic Skin: Skin that can be stretched much more than usual and is often soft and velvety to the touch.
- Wide Atrophic Scars: Scarring that is typically wider and thinner than normal, often appearing as papyraceous (paper-like).
- Joint Hypermobility: Flexible joints that extend beyond the normal range, leading to frequent dislocations and pain.
Vascular EDS (vEDS)
- Arterial Rupture: Increased risk of severe complications from the rupture of major arteries.
- Organ Rupture: Spontaneous rupture of organs, such as the intestines or uterus, is a significant risk.
- Thin, Translucent Skin: Skin that is noticeably thin and translucent, easily showing veins through the surface.
Kyphoscoliotic EDS (kEDS)
- Progressive Kyphoscoliosis: Development of kyphosis and scoliosis that worsens over time.
- Muscle Hypotonia: General muscle weakness present from birth.
- Joint Laxity: Extremely loose joints, significantly beyond typical hypermobility, often leading to frequent dislocations.
Dermatosparaxis EDS (dEDS)
- Severe Skin Fragility: Skin that tears and bruises very easily; wounds often split open with little to no trauma.
- Saggy, Redundant Skin: Excess skin that hangs in folds, appearing prematurely aged.
- Soft, Doughy Skin Texture: Skin feels soft and doughy to the touch.
Classical-like EDS (clEDS)
- Skin Hyperextensibility: Skin that stretches more than normal but less so than in classical EDS.
- Absence of Atrophic Scarring: Unlike classical EDS, scarring is not typically atrophic.
- Vascular-Sparing: The vascular complications seen in vascular EDS are typically absent.
The diagnosis of Ehlers-Danlos Syndromes (EDS) can indeed be a lengthy and complex journey for many patients, often described as a diagnostic odyssey.
Here are some key reasons why, along with resources for more detailed information:
Variability of Symptoms
- EDS symptoms can vary widely not only between the different types but also among individuals with the same type. No patient experiences the same issues and/or instability and consequential pain or disruption in their quality of life depending on which parts of their bodies are impacted. This variability can lead to misdiagnosis or dismissal of symptoms as unrelated.
- More Information: The Ehlers-Danlos Society – Symptoms
Lack of Awareness and Expertise
- Many healthcare providers are not familiar with EDS, particularly less common types, which can delay diagnosis as patients often go through numerous specialists before finding one knowledgeable about EDS.
Overlapping Features with Other Disorders
Absence of Simple Diagnostic Tests for Some Types
- While some types of EDS can be confirmed with genetic testing, the most common type, hypermobile EDS (hEDS), has no specific genetic marker and is diagnosed based on clinical evaluation, which is subjective and relies heavily on the clinician’s experience, or lack of awareness often leading to dismissive practices by healthcare providers who weren’t trained in connective tissue disorders.
Average Time to Diagnosis
- Studies and surveys within the EDS community suggest that it can take years, and sometimes decades, to receive an accurate diagnosis. The average time reported varies, but it is not uncommon for the process to take over 12-14 years. Others swear it’s closer to 17-20 years.
If you want to understand how some patients cope with diagnostic challenges, read the Revenge of the Gaslit Patients STA News article featuring patient researcher Dr. Cortney Gensemer.
