EDS and It's Different Types
The clinical observance Ehlers Danlos Syndrome is ancient. Hippocrates made observations during his time around 400 B.C. about the development of bruises and joint laxity in certain types of people with the symptoms. But it wasn't until the early 20th century that it was given a name by two physicians in two separate countries. Edvard Ehlers from Denmark observed the unique characteristics of the disease and how it affected the skin in 1901. And in 1908 Henri Alexandre Danlos of France noticed these characteristics as well. He suggested that the tissue fragility were distinguishing markers of the disease. The disease was given the actual name 'Ehlers Danlos' after the suggestion was made by British Doctor, Frederick Parkes-Weber M.D. in 1936 after the two original doctors who put the pieces of the puzzle together.
The Beighton scale was once considered one of the primary diagnostic tools for determining if a person had EDS. However, this not the only means in which a diagnosis is given anymore. Patient history, including family history, genetic testing, and symptomology also play a huge role in this process. And Ehlers Danlos Syndrome is one of those conditions that is more of an umbrella term for there are 13 sub-types of the disease. Also, EDS almost always is accompanied by other disorders such as POTS, MCAS, TMJ. These are not all that are associated with EDS, but they are the heavy hitters.
The characteristics of Hyper-mobile EDS are as follows. Joint Hyper-mobility (Joints flexing past normal range of motion), Chronic joint dislocations, subluxations (partial dislocation) and chronic joint and muscle pain. The skin of EDS patients is also affected. They generally have velvety soft skin, which is often is stretchy and is easily torn or bruised. EDS is a genetic disease. And is probably the most common type to be diagnosed next to Classical EDS.
The Genetic Basis for this type of EDS unknown as is the protein involved. EDS patients have a hard time healing. Often their scars look like "cigarette paper" scars also known as atrophic scars, which have poor borders and color. If an EDS patient has a wound that requires suture, Surgical glue is generally the best course of treatment.
Regular stitches can tear the skin they run through around the wound. Also, staples are generally not a good idea unless absolutely necessary. They create the same problems as stitches, and when it is time to remove the staples, often times the incision they were used to close can open back up again, which delays healing further. The scars do fade over time, but not to the extent of Non-EDS patients. You can see some examples of scars in my photo gallery.
The primary characteristics of this type affect small and large joints. The genetic protein involves the Type V & Type 1 Collagen. The Genetic Basis for this type of EDS is Major; COL5A2 and COL1A1. Their skin is very stretchy, bruises easily, form atrophic scars of healed incisions. This type can also form calcified hematoma Molluscoid pseudotumors. These generally form over the "points of the body" such as the elbows and knees. Fatty lipomas can also form under the skin.
These are generally benign and often form around the neck, shoulders, arms, and shins. These can be problematic depending on where they are located and if they get infected and may require surgery to remove them to keep them from reappearing. There are risks of developmental delays with fine motor skills.
Vascular is probably the most dangerous type of EDS. VEDS have many characteristics different from the other types. First and foremost is the fact that the soft tissue if prone to rupture. This does not just include the dermis, but the vascular system, organs, and just about everything else in the body. This means that the patients are at a greater risk of an aneurysm, organ rupture in women, and uterine rupture.
The skin is often translucent, and soft velvety feel and very fragile. It tends to age faster than the average person's skin, especially in the hands and feet. I would make the assumption that is because these parts of the body come into contact with everything. They tend to have thin features, larger eyes and can have an early presentation of varicose veins. They have joint hypermobility but it is more common in the smaller joints, although this is not always the case. It is important for patients and physicians to keep in mind that each individual is different and so are the symptoms and issues they have.
Some other things that come with this type of EDS are the risk of a Tension Pneumothorax (collapsed lung), smoking increases this risk. Tendons ligaments and Muscles are prone to rupture. Which often times surgery is required to repair tendons and ligaments.
There is also the possibility of gum recession and your dentist should be aware of your EDS if you do have it. If they are not familiar with this disease, ask them to consult your EDS doctor so they can be educated before proceeding with care. EDS patients are often times immune to "Caine drugs". Such as Lidocaine, Novocaine, Benzocaine, Articaine, and other drugs that fall into this category. When this is the case, other forms of anesthesia need to be used.
This type has a huge impact on the skeletal system. The characteristics of this type are scoliosis which progresses throughout life, sunken chest structure, (Pectus Excavatum) or Protruding chest structure (Pectus Carinatum). Symptoms of vascular EDS can be severe. More so involving the circulatory system. This means they are prone to aneurysm and vessel rupture.
The limbs of the patients with this type tend to be longer, presenting with marfanoid habitus. The fingers are long and slender and the skin is fragile, easily tears and bruises. This a rarer type of EDS. Patients who have this type must be vigilant as to not hurt themselves and cause further problems.
This type of EDS has severe joint dislocations, congenital hip dislocation, all the skin symptoms of the previously listed types, as well as very fragile eye globes. They also have scoliosis and osteopenia (bone loss)).
This type of EDS is characterized by excessive amounts of skin that heal poorly and bruises easily. They also are at higher risk for hernias. The excess skin affects the arms and face the most, but can be present in other areas.
This type of EDS is a recently added type to the list of different EDS types. There used to be 7 main types of EDS, and each one had its own criteria for diagnosing a patient. This type of EDS has the symptoms of Classical EDS, without chronic joint dislocations. Also, there is stretchy skin, but atrophic scars do not occur when incisions heal. They also tend to show large bruises that are the result of blood pooling beneath the skin. This is called spontaneous ecchymoses.
The Other Types Of EDS
Spondylodysplastic EDS, also know as SPEDS is characterized by short stature bowing of limbs, especially the legs and muscle hypotonia which can vary in degrees of severity and can be congenital.
Musculocontractural EDS, also know as MCEDS is characterized by club foot at birth, joint hyperextensibility, , fragile skin with bruising with the presentation of atrophic scars, and palmar wrinkling.
Myopathic EDS, also known as MEDS characterized by congenital muscle atrophy, hypotonia that usually improves as the patient gets older. Proximal joint contractures of hinge joints like knees, ankles and elbows and hypermobility of distal joints, Hands, feet, phalanges, and wrists.
Periodontal EDS, also known as PEDS characterized by severe and intractable periodontitis during juvenile years. Family history is also required to make a diagnosis of this type.
Cardiac-valvular EDS, Also know as CEVEDS is characterized by severe progressive cardiac-valvular problems, including a heart murmur, The same skin involvement as VEDS, easily torn, bruised, and atrophic scarring. And joint hypermobility and extendability.
There is no cure for any type of EDS, and the treatments are more about treating the symptoms of EDS than actually treating the disease itself. Joint bracing, surgery, medication, and pain management are usually the course of treatment for this disease.
EDS is a rare disease, depending on the type depends on specifically how rare it is. It is also a genetic disease, meaning it is passed along the hereditary lineage of the patient. Another factor is also where in the world someone is whether the symptoms will be recognized by a physician and properly diagnosed. in the USA, EDS is in about 1 in every 20,000 to 40,000 people. These figures are debatable and as mentioned before, it depends on the type. There is testing to confirm a diagnosis for certain types and the Beighton Scale is also a system physicians use to diagnose EDS, along with a broader view of the patient's medical history.
Physical Therapy, Physio Therapy, and Occupational Therapy can all help with dealing with EDS. Physical and physiotherapy help to strengthen the muscles surrounding the joints and help to keep them in the socket. and Occupation therapy helps patient acquire and design equipment to make everyday life more normal and adapt to perform tasks in which may prove difficult to someone with the disability.