Many people and healthcare professionals are still unfamiliar with the Ehlers-Danlos syndromes (EDS), the hypermobility spectrum disorders (HSD), and the complex ways in which these conditions can affect people’s lives.
The problems seen in EDS and HSD often go unconnected for many years. Many report being told their symptoms are “all in their head” or that they cannot possibly be experiencing the pain or other symptoms they say they are, being told they are attention-seeking or drug-seeking. Imaging and lab tests often come back as normal. Misdiagnosis is common, delaying treatment, or resulting in unnecessary surgeries or unsuitable treatments.
The Ehlers-Danlos Society too often hears from people with EDS or HSD that once diagnosed there is often little or no follow-up care, and patients are not given information on their condition, how to self-manage aspects of their care, adaptions that can be made to improve quality of life, or where to find support for a lifelong, chronic condition.
People have been turned away from Emergency Rooms or had treatment delayed due to misconceptions or lack of knowledge on the different types of EDS, HSD, and their associated conditions. This needs to change, and awareness and education are key.
At The Ehlers-Danlos Society, we are working hard to change this through educational programs, awareness campaigns, and funding research. We want to break down and correct some of the myths and misconceptions that are often seen, both in healthcare and in the community. Shared especially through social media, they can result in an increase in stigma and misunderstanding that can touch on all areas of life from finding treatment to school, work, and daily life.
Myth #1: The Ehlers-Danlos syndromes are ‘just stretchy skin.’
Reality: The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue. Connective tissue is found all over the body, in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
They are generally characterized by joint hypermobility (joints that move further than normal range), joint instability (subluxation, a partial separation of the articulating surfaces of a joint; and dislocations, a full separation of the surfaces of a joint), scoliosis and other joint deformities, skin hyperextensibility (skin that can be stretched further than normal) and abnormal scarring, and other structural weakness such as hernias and organ prolapse through the pelvic floor. In the rarer types of EDS, there is also a weakness of specific tissues that can lead, for example, to major gum and dental disease, eye disease, cardiac valve and aortic root disorders, and life-threatening abdominal organ, uterine, or blood vessel rupture.
Several related disorders are observed in a number of people with EDS. These are known as comorbid conditions or associated symptoms and conditions. These add complexity to the presentation of their condition and its management. Such related disorders include, for example, functional bowel disorders, autonomic dysfunction, chronic fatigue, neurological concerns including cord and nerve entrapment and sensory neuropathy, immune hypersensitivity, anxiety disorders, depression, and neurodevelopmental concerns such as ASD and ADHD.
Myth #2: EDS and HSD is ‘just being a bit bendy.’
Reality: Much more than ‘just’ hypermobility, people with EDS and HSD experience joint instability (subluxations and/or dislocations) and reduced position sense (proprioception) with an increased risk of injury to the tissues around joints and the surface of joints.
Hypermobility that does not cause pain or other symptoms is referred to as “asymptomatic joint hypermobility” and does not need to be treated. The problem occurs when joints are not just hypermobile but are also unstable. This results in joint sprains, and/or other injuries, which cause both acute and chronic pain and problems with daily life.
Myth #3: Hypermobile EDS (hEDS) is more severe than hypermobility spectrum disorder (HSD).
Reality: HSD, just like hEDS and rarer types of EDS, can have significant effects on a person’s health, whether this is related to their joints or to comorbidities. Among the most common of these concerns are nausea, vomiting, acid reflux, bloating, pain, absorption, and food intolerance concerns; autonomic disturbances of heart rate and blood pressure, bowel and bladder function, and temperature regulation; anxiety, depression, and phobias; and organ / systemic inflammation related to mast cell activation. These associations are very real. They seriously affect quality of life, and they need to be managed. These additional problems need to be evaluated and treated when an HSD is diagnosed.
Whatever the problems that arise, whatever the diagnosis, it is important that these effects are managed appropriately, and that each person is treated as an individual. HSD and hEDS can be equal in severity, but more importantly, both need similar management, validation, and care.
Myth #4: Hypermobile EDS (hEDS) is diagnosed by genetic testing.
Reality: The genetic variant(s) that causes hEDS has not yet been identified. All other types of EDS have known genetic causes and can be confirmed through genetic testing. A diagnosis of hEDS is made clinically using the 2017 diagnostic criteria. There is no genetic test yet for hEDS.
In some cases of hEDS, a doctor may think it is necessary to run a genetic test to rule out another type of EDS before being satisfied the person has hEDS. This might happen in cases where there are signs or family history, for example, that the doctor thinks could also fit with one of the rarer types of EDS.
The Ehlers-Danlos Society is funding research to find the underlying genetic markers for hEDS. In 2018, the $ 2 million Hypermobile Ehlers Danlos Genetic Evaluation (HEDGE) was launched, a global study to devoted to finding these genetic causes and helping in the search for a diagnostic test. The HEDGE study will recruit, screen, and undertake genetic sequencing tests on 1000 individuals who have been diagnosed with hypermobile EDS by the most recent clinical criteria established in 2017.
In 2021, The Ehlers-Danlos Society awarded $1million to researchers for molecular studies in hEDS and hypermobility spectrum disorders (HSD). A further $260,000 in research funding was awarded in late 2021 to accelerate diagnostic tools. There is currently an unmet clinical need for the development of sensitive and unbiased diagnostic tools for hEDS. Dr. Chip Norris at the Medical University of South Carolina, Principal Investigator, and Dr. Clair Francomano of IU University, Co-Investigator, will lead a newly funded study in collaboration with The Ehlers-Danlos Society Hypermobility Network.
This research study will seek to lead to the development of an accurate and rapid diagnostic test that can be accessible for all individuals living with hEDS, globally, overcoming the many barriers that people with hEDS face in receiving a proper diagnosis.
In 2022, The Ehlers-Danlos Society announced $400,000 towards a new comprehensive study of blood and DNA in individuals with HSD and hEDS. This study, made possible through the generosity of donors, is enrolling fifty people with a diagnosis of hEDS and fifty people with a diagnosis of HSD to examine levels of blood proteins, epigenetic marks on DNA, and DNA sequence. This will be the largest, most comprehensive examination of blood protein levels to date and may provide insights into the nature of the disorders as well as possibly advancing diagnosis and treatment.
Additionally, the study will examine the way DNA is “marked” in people with hEDS and HSD. These chemical (epigenetic) marks on DNA serve as an additional layer of information controlling the expression of genes and could be involved in causing these conditions. This will be the first study of such epigenetic marking of DNA in hEDS or HSD.
Myth #5: There is no treatment for EDS or HSD.
Reality: There are many ways in which the symptoms and complications of EDS and HSD are treated. Often doctors and therapists will use many of the same treatments that are available for other pain disorders, and adapt them e.g., as done in physical therapy.
The same applies to treating associated concerns, though there may be specific causes for the associated symptoms that need to be understood to optimize treatment e.g., slow gut transit, bladder inflammation, sensory neuropathy etc.
Vascular pathologies in EDS need close monitoring, and management to reduce the risk of high blood pressure, potentially need B blocker or ACE inhibitor medication, and may require surgery.
These are just a few examples of the many treatments in EDS and HSD.
Myth #6: EDS and HSD don’t cause pain.
Reality: The most common concerns reported by more than 90% of people presenting to their doctor with EDS or HSD are pain and fatigue.
The pain may be coming from their joints (arthralgia), their muscles (myalgia), a neurological concern (neuralgia) or from organs in the abdomen and pelvis (visceral pain). In addition, studies have also shown that pain experienced during bleeding in the period cycle (menorrhagia) is greater in some people with EDS than in the general population.
There are many reasons why someone with EDS or HSD might have pain.
Myth #8: EDS and HSD can be treated with collagen supplements.
Reality: There is no evidence that collagen supplements help people who have EDS or HSD. The collagen in the supplement is broken down during digestion like all other proteins and does not help repair or replace the faulty collagen produced by the body.
Most types of EDS cause defective collagen, not a collagen deficiency. No supplement changes the genetic “directions” to keep producing defective collagen.
Myth #9: You can be ‘too old’ or ‘too young’ to have EDS or HSD.
Reality: EDS and HSD affect people of all ages. People are born with these conditions and are affected by them throughout their lives. Symptoms may be apparent from birth, begin at puberty, or become apparent later in life.
Myth #10: ‘You don’t look like someone who has EDS or HSD.’
Reality: People from all races, genders, ages, and body shapes can have EDS or HSD. In the rarer types of EDS, there may be characteristic facial features, but this is not true all of the time. Otherwise, there isn’t a known ‘look’ in EDS or HSD so the comment ‘you don’t look like someone with EDS or HSD’ is not helpful.