Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders characterised by hypermobility (joints that can move far more than is usually possible), hyperextensibility in the skin (rubbery or extremely stretchy skin) and brittle or fragile tissue. Many people with EDS also experience pain due to joint and muscle instability and fragile skin. EDS is broken into 13 subtypes identified by a major and minor criteria and determined by individual symptoms. All of the syndromes are congenital so cannot be developed or contracted.
Arthrochalasia EDS (aEDS)
aEDS is typified by congenital bilateral hip dysplasia (both hip joints are poorly formed causing the hips to be unstable or potentially dislocate), generalised joint hypermobility (GJH), a condition that allows joints much more flexibility than usual, leading to multiple dislocations and subluxations (misalignment of the vertebrae).
Brittle Cornea Syndrome (BCS)
People with BCS have thin corneas, blue sclera (a bluish tinge to the whites of the eye due to a thinning of the collagen fibres in the eye allowing the hue of blood vessels to be seen through the translucent membrane of the eye. People with BCS will also show signs of early onset keratoconus and keratoglobus, eye conditions that feature thinning and misshapen corneas.
Cardiac-valvular EDS (cvEDS)
In addition to skin hyperextensibility and joint hypermobility, people with Cardiac-Valvular EDS may experience varying degrees of leaking valves in the heart, from mild to severe (typically involving the aortic and/ or mitral valves).
Classical EDS (cEDS)
Classical EDS is the most common form of Ehlers-Danlos and features generalised joint hypermobility, skin hyperextensibility as well as atrophic scarring, subdermal scarring much like that seen in bad acne or chickenpox.
Classical-like EDS (clEDS)
Classical-like EDS has much in common with Classical EDS but with a few notable differences. While both conditions feature skin hyperextensibility, people with classical-like EDS don’t develop atrophic scars and generally have smooth, velvety skin texture. The skin typically bruises easily or otherwise discolours due to subcutaneous bleeding. People with classical-like EDS suffer with joint hypermobility, particularly in the shoulders and ankles.
Dermatosparaxis EDS (dEDS)
The signs and symptoms of dEDS vary quite wildly but will always include fragile, easily broken, bruised and scarred skin. Other symptoms include a short stature, excessive baggy skin, especially in the face, short fingers and stature and a number of identifiable facial features. These features include puffy eyelids, downturned corners of the eye, epicanthic folds and micrognathia (a small jaw)
This form of EDS features the generalised joint hypermobility without the typical skin hyperextensibility or fragility.
Kyphoscoliotic EDS (kEDS)
kEDS is typified by both congenital muscle hypotonia (lack of muscle tone) and kyphoscoliosis, a combination of kyphosis (a rounding or hunching of the back) and scoliosis (a sideways curvature of the spine).
Musculocontractural EDS (mcEDS)
People with musculocontractural EDS have malformations of the hands and feet, such as adducted (permanently flexed) thumbs, clubfeet or arachnodactyly (long, curved finders). Other symptoms include hyperextensive skin that is brittle, easily bruised and prone to atrophic scars.
Myopathic EDS (mEDS)
Congenital muscular hypertonia (lack of muscle tone), contractures (permanent tightening) of the hips, knees and elbows any hypermobility in the wrists, hands and ankles are the defining characteristics of Myopathic EDS.
Periodontal EDS (pEDS)
People with periodontal EDS develop severe, uncontrollable periodontitis early in life. Periodontitis, otherwise known as gum disease causes severe and lasting damage as it damages both the soft tissue of the gums as well as the bone that supports the teeth. If you have pain and swelling in your gums or bleed when you brush your teeth, you should make an appointment to see a dentist as soon as possible.
Spondylodysplasia EDS (spEDS)
People with this form of EDS exhibit a short stature, a bowing of the limbs and a general lack of muscle tone (hypotonia).
Vascular EDS (vEDS)
Vascular EDS is typified by thin, translucent and extremely fragile skin. This fragility may also be present in a number of internal organs including the intestines, uterus and lungs making them prone to rupture. Although not always the case, people with vascular EDS are often short in stature and have large eyes, lobeless ears and thin hair.
While the visual signs may indicate the possible form of EDS, a person may also have genetic screening, necessary for a correct characterisation of the specific subgroup. This is because the genetic basis for EDS varies, as does the specific protein that is affected by the condition. Mutation in a number of genes leads to a change in how the body manufactures and processes collagen or proteins that interact with collagen, leading to changes in connective tissue in the skin, muscle, tendons, organs and bones.
In most cases, EDS is inherited from one or both parents, but it can also be caused by a spontaneous gene mutation,
Living with and Treating Ehlers-Danlos Syndromes
Treatment for EDS varies based on the specific subtype but is typically directed towards treating symptoms and preventing serious complications. Basic treatment usually involves remedial physical therapy for muscle and joint instability and pain, medication for pain management and surgery to repair more severe damage caused by the condition, such as ruptured organs or damaged joints. Additional treatments may be recommended or required depending on the form of EDS.
Most people with EDS, with appropriate management & support can expect to live a full life, but some forms of the condition can significantly reduce expected lifespan. Vascular EDS is the most severe form of the condition and has a shortened life expectancy of around 50 years as a result. Preventing damage or limiting exposure to potential damage can help a person with EDS limit complications, so wearing sunscreen and avoiding harsh soaps can help fragile skin, and avoiding sports, lifting heavy objects and using mobility aids (canes, walking frames etc) can help alleviate symptoms in hypermobile joints.
EDSAUS - the Ehlers-Danlos Syndrome support group offers support and advice to Australians living with EDS as well as their families.
If you believe you or your child may be displaying signs of an Ehlers-Danlos Syndrome and would like to see a doctor for a diagnosis or referral, or you are in need of treatment for symptoms, the easiest way to find and book an appointment is through MyHealth1st.
Dr. Ross Walker
Consultant Cardiologist; Media Health Presenter; Author; Professional Speaker. Dr Walker’s new radio show Healthy Living airs on the Macquarie Radio Network nationally each Sunday for 2 hours at 7PM