EDS Awareness Month
EDS (Ehlers-Danlos Syndrome) Awareness Month is recognized in May
Spread awareness about this group of connective tissue disorders, advocate for research, and support those affected
The awareness color for EDS is typically zebra-striped, symbolizing the rare nature of the condition (since in medicine, “when you hear hoofbeats, think horses, not zebras”—EDS patients are the “zebras”).
What You Can Learn
Ehlers-Danlos Syndrome, EDS, a type of hypermobility, is a disease that weakens the connective tissues of your body, things like tendons and ligaments that hold parts of your body together, it also can weaken blood vessels and organs. EDS can make a person’s joints loose, skin thin and make them prone to bruise easily.
Additionally, symptoms can range to include joint pain, bone ache, chronic pain, fatigue, depression, and suicide. This is commonly a genetically transmitted disease, encompassing the whole body. According to the National Institute of Health (NIH), as of 2017, there are 13 subtypes of EDS as listed. Although other forms of the condition may exist, they are extremely rare and are not well-characterized.
This syndrome affects just under 200,000 people each year.
People with Ehlers-Danlos Syndrome (EDS) often experience issues with their autonomic nervous system, which controls automatic body functions like heart rate and digestion.
This condition, called dysautonomia, happens when there is an imbalance between two parts of the nervous system: the Parasympathetic (which helps the body relax) and the Sympathetic (which helps the body respond to stress).
While scientists are still exploring what causes EDS, research shows that the nervous system dysfunction linked to the disorder can be identified, diagnosed, and treated. This research is just the beginning...
More studies with larger groups of patients from different backgrounds are needed to better understand and manage EDS as awareness continues to grow.
A defining feature of EDS is autonomic dysfunction,
ALL FORMS OF DYSAUTONOMIA ARE TREATABLE & CURABLE!
Autonomic dysfunction, also known as dysautonomia. Dysautonomia is generally caused by an imbalance between the two branches of the Autonomic Nervous System: the Parasympathetic (rest & digest) and the Sympathetic (fight or flight) nervous systems.
This may help explain the delayed onset of symptoms. During childhood and adolescence, the autonomic nervous system (ANS) is highly active in supporting development, which may mask dysautonomia symptoms.
However, as development slows in the late teens or early twenties, dysautonomia symptoms become more apparent, often resulting in persistent autonomic nervous system overactivity.
What to Know About Identifying EDS
Several key characteristics have been identified:
1) It affects females significantly more than males;
2) In childhood, the increased flexibility may seem beneficial due to a lack of severe symptoms; and
3) Symptoms often emerge in late adolescence or early adulthood, causing previously active individuals to experience a decline in health and quality of life.
Patients with EDS often experience widespread pain, particularly in the shoulders, upper back, between the shoulder blades, jaw, and hips. Many report joint hypermobility, with frequent subluxations (partial dislocations) or joints popping out of place, affecting the knees, elbows, ankles, wrists, jaw, and even the cervical spine.
Hyper-flexibility in the lumbar spine may also allow some individuals to touch the ground with their palms while keeping their knees straight.
In addition to musculoskeletal symptoms, patients commonly report shortness of breath, palpitations, dizziness, and fainting or near-fainting episodes, particularly when standing for extended periods.
Fatigue is another major concern, with patients struggling to wake up in the morning, experiencing persistent exhaustion, and having difficulty with concentration, memory, and cognitive function (commonly called "brain fog").
Sensitivity to bright lights or loud sounds is also frequently noted.
These symptoms—aside from joint issues—are linked to dysautonomia, which can also contribute to amplified pain and Fibromyalgia-like symptoms.
Many Patients Recall Being Athletic In Childhood
Often excelling in dance or gymnastics due to their flexibility. They may describe themselves as "double-jointed." A family history of similar symptoms can be a key diagnostic clue in determining whether a patient has Ehlers-Danlos Syndrome.
Physical signs include soft, hyper-extensible (overly stretchy) skin, particularly if the skin on the non-dominant forearm stretches more than 2 cm. The skin may also feel velvety, and patients may have stretch marks (striae) on their back, thighs, breasts, or abdomen.
Additionally, there may be a history of recurrent abdominal or inguinal hernias. Some patients report childhood pelvic floor abnormalities, including rectal or uterine prolapse.
In certain cases, an arm span greater than height may be observed, though conditions like Marfan's Syndrome should be considered first when this feature is present.
The combination of the Beighton score (a scale used to assess joint hypermobility) and the EDS Diagnostic Checklist improves diagnostic accuracy. However, a detailed medical history and physical examination remain essential in identifying systemic features of EDS.
Areas Considered when Diagnosing EDS
1) A family history of the condition,
2) Recurrent musculoskeletal complications, such as limb pain lasting more than three months,
3) Widespread pain, and
4) Spontaneous joint dislocations or instability without significant trauma.
In older patients, arthritis and weight gain due to exercise intolerance may limit mobility, making the patient’s history even more crucial for diagnosis.
Many rheumatologists refer patients for evaluation of autonomic dysfunction after excluding other connective tissue diseases. Additionally, some EDS patients are mistakenly labeled with Fibromyalgia due to symptom overlap.
Other connective tissue disorders, such as Lupus, Rheumatoid Arthritis, and Scleroderma, should be ruled out, as they also affect collagen and connective tissue and may cause joint hypermobility along with other potentially life-threatening complications.
Unfortunately, there is no definitive blood test, lab test, or imaging study to confirm an EDS diagnosis; it remains a clinical diagnosis based on symptoms and history.
No standardized genetic test has been identified for EDS. Some patients present with this syndrome without a family history, despite a thorough search by their physician. These cases are rare, and the exact percentage is unknown.
While diagnosing hypermobile Ehlers-Danlos Syndrome is not necessarily difficult, it requires a thorough history and physical examination. A detailed family history is also critical, sometimes necessitating the examination of family members.
Ruling out other hereditary connective tissue disorders is essential, often requiring consultation with a skilled rheumatologist and an expert in the autonomic nervous system. Genetic testing may help exclude vascular-type EDS, Marfan’s Syndrome, and other related connective tissue diseases.
Currently, there is no known cure for EDS.
While there is no cure for EDS, treatment and management for EDS is focused on preventing serious complications and symptom relief. The features of EDS vary by subtype, so management strategies can be slightly different, and due to the several body systems that may be affected, different medical specialists are usually involved in a patient’s care.
The main aspects of management include cardiovascular (heart) work-up, physical therapy, pain management, and psychological follow-up as needed. Surgery is sometimes recommended for various reasons in people with EDS. However, depending on the type of EDS and severity, there may be an increased risk of various surgical complications such as wound healing problems, excessive bleeding, dissection, and hernias.
The relief for those affected can be provided by balancing the autonomic nervous system.
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about the author
Dr. Joseph Colombo
Background
Dr. Colombo is trained in neurology with a background in electrical and mechanical engineering. His focus is Neuro-Cardiology. His doctorate from University of Rochester Medical School, NY, is in Neuroscience and Biomedical Engineering.
For over 25 years, Dr. Colombo has developed P&S nervous system technologies and has researched and published clinical applications and outcome studies in uses of non-invasive P&S monitoring in critical care (trauma and sepsis), anesthesiology, cardiology, endocrinology, family medicine, internal medicine, pain management, neurology, neonatology, pediatrics, psychiatry, pulmonology, sleep medicine, and more as positive, patient outcomes data are available.
He has (co-)authored over 100 journal articles internationally, and has ghost-written over 100 more. He has also (co-)authored book chapters and medical textbooks on clinical applications of, and outcomes from, non-invasive P&S guided therapy.
Dr. Colombo continues to participate in more than 50 clinical research projects world-wide and consults with physicians, clinically, on a global scale.
He has a wife of almost 40 years and two married children, and a grandchild, with over 30 years of mentoring hundreds of youths and students, including medical students.
Types of EDS
Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders caused by genetic defects affecting collagen production. Here is a list of the different types of EDS and how they are characterized:
Hypermobile EDS
Characterized primarily by joint hypermobility affecting both large and small joints, which may lead to recurrent joint dislocations and partial dislocations.
Classical EDS
Associated with extremely stretchy, smooth skin that is fragile and bruises easily; wide, atrophic (flat or depressed) scars; and joint hypermobility. Molluscoid pseudotumors, calcified hematomas over pressure points such as the elbow, and spheroids, fat-containing cysts on forearms and shins, are also frequently seen. Hypotonia and delayed motor development may occur.
Dermatosparaxis EDS
Associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias
Vascular EDS
Characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. People with this type typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose, and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria, defined as premature aging of the skin of the hands and feet; early onset varicose veins; pneumothorax, collapse of a lung; recession of the gums; and a decreased amount of fat under the skin.
Kyphoscoliosis EDS
Associated with severe hypotonia, decreased muscle tone, at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small corneas; and osteopenia, defined as low bone density. Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (medically termed: arachnodactyly); unusually long limbs; and a sunken chest (medically termed: pectus excavatum) or protruding chest (medically termed: pectus carinatum).
Brittle Cornea Syndrome BCS
Characterized by thin cornea, early onset progressive keratoglobus, a degenerative non-inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve; and blue sclerae, described as a bluish coloration of the whites of the eyes.
Arthrochalasia EDS
Characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia.
Classical-like EDS
(clEDS) - Characterized by skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility (GJH) with or without recurrent dislocations (most often shoulder and ankle), and easily bruised skin or spontaneous ecchymoses (discolorations of the skin resulting from bleeding underneath).
Spondylodysplastic EDS
(spEDS) - Characterized by short stature (progressive in childhood), muscle hypotonia (ranging from severe congenital, to mild later-onset), and bowing of limbs.
Musculocontractural EDS
(mcEDS) - Characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot), characteristic craniofacial features, which are evident at birth or in early infancy, and skin features such as skin hyperextensibility, easy bruisability, skin fragility with atrophic scars, increased palmar wrinkling.
Myopathic EDS
(mEDS) - Characterized by congenital muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal joint contractures (joints of the knee, hip and elbow); and hypermobility of distal joints (joints of the ankles, wrists, feet and hands).
Periodontal EDS
(pEDS) - Characterized by severe and intractable periodontitis of early onset (childhood or adolescence), lack of attached gingiva, pretibial plaques; and family history of a first-degree relative who meets clinical criteria.
Cardiac-Valvular EDS
(cvEDS) - Characterized by severe progressive cardiac-valvular problems (aortic valve, mitral valve), skin problems (hyperextensibility, atrophic scars, thin skin, easy bruising) and joint hypermobility (generalized or restricted to small joints).
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