Genes, EDS, and Connective Tissue
Let’s first understand what a heritable disorder is. To simplify, our DNA is a complex code system that can be split into functional units called genes. Most of the time, genes contain the transcript to create proteins. These proteins provide the framework for each cell in the body to do its job. Ultimately our genes determine how our body looks and functions.
EDS is a genetic disorder, inherited from biological parents, that affects connective tissue. Connective tissue is the framework of skin, bones, tendons, ligaments, blood, and fat that holds our body together. The genes associated with EDS can create abnormal proteins responsible for these many areas of the body. Most notably, people with EDS can have abnormalities in genes that create collagen proteins.
Collagen consists of nearly a third of all proteins in our body and plays a significant role in the integrity of our cells and tissue structure. This makes sense because our skin is the largest organ in our body and consists of collagen. Collagen’s rigidity essentially makes it the single most important protein in preventing our tissues from stretching excessively.
Because of advances in genetic technology and identification of gene mutations, the 2017 International Classification of Ehlers-Danlos Syndromes classified 13 different types of EDS. For severe examples, Arthrochalasia EDS can involve multiple dislocations and subluxations of joints, and Vascular EDS can involve rupturing of the arteries. A less severe example is Classical-like EDS which involves stretchy skin and easy bruising.
Depending on the type of EDS, there may also be varying degrees of sensory changes, spinal deformities, joint dislocations, organ abnormalities, temporomandibular joint dysfunction (TMD), gum disease, acid reflux, constipation/diarrhea, dysautonomia (nervous system dysfunction), vascular disorders, or thinning of the cornea.
What to do?
Get a diagnosis! It is important to get a molecular diagnosis by a genetic scientist and speak with a genetic counselor to guide treatment. Without knowing the classification of EDS, it is difficult to devise an accurate plan to prevent symptoms and treat existing symptoms.
Unfortunately, since EDS is genetic in nature, we cannot cure the syndrome. However, we can alleviate symptoms associated with it. Multidisciplinary care is crucial for people who have EDS. Depending on the type and severity of symptoms, a cardiologist, dermatologist, rheumatologist, and/or gastroenterologist may be involved in comprehensive care. Surgery is often done only on extreme cases due to tissue fragility. Some joint stabilizing procedures can be beneficial. Injections and procedures should be done with extreme care to prevent excessive tissue injury and bruising.
Physical Therapy’s Role in EDS
One huge aspect of physical therapy care in the treatment of EDS involves muscle strengthening. Recall from the last blog on Strengthening that our skeletal muscles are the only voluntary muscles in our body that we can actively contract, relax, strengthen, and stretch. A combination of mild-moderate resistance and endurance exercises are beneficial to maintain healthy muscle tone.
Because EDS already causes excessive stretching, it is important to focus on strengthening muscles in a safe way. Pain, fatigue, and fear of injury may prevent people with EDS from maintaining a regular exercise program. So it is important that PTs stress the importance of safe exercises. Studies have shown that swimming is a great way to build endurance while managing pain. Gentle, lightweight, non-weight bearing exercises have been shown clinically to decrease pain related to joint instability.
Infants with EDS may present with “floppy baby” syndrome where their muscles have less tension. Children may have developmental delays, late walking, increased falls, reduced endurance, and clumsiness. Early intervention physical therapy and pediatric physical therapy can allow infants and children to improve motor skills and muscle tone.
*Note: If you are pregnant or thinking about getting pregnant and are diagnosed with Classic EDS, then it is helpful to see a pelvic floor physical therapist as soon as you can. Pelvic organ prolapse and incontinence may occur postpartum due to decreased tissue integrity. Female adults also may encounter more frequent instances of urinary urgency, bladder pain, and incomplete bladder emptying. Strengthening the pelvic floor muscles can prevent and manage symptoms.
Proprioception is your joints’ ability to know where they are in space. It allows us to maintain balance, move our limbs in a coordinated way, and prevent falls. People who have decreased proprioception also may have poor balance and can end up with injuries like sprained ankles. With EDS, proprioceptive training can help control joints from over-extending and prevent ligamentous injuries. One simple example of a proprioceptive exercise is balancing on one leg without arm support. A more complex example is balancing on one leg on a foam surface while playing toss.
Because EDS involves joint hypermobility, it is important to avoid activities that might further stretch muscles and move joints in repetitive ways. For example, in the case of Classical EDS, which mainly consists of stretchy skin, poor scarring, and joint hypermobility, it’s important to avoid vigorous contact sports like football and to be cautious not to reopen stitches and wounds.
Splints, bracing, and orthotics can be used in severe cases to limit excessive movement of joints. For example, for people with the type of EDS involving excessive dislocations, supportive bracing around the involved joints can help stabilize this area to prevent shearing and injury as well as provide proprioceptive training. Foot inserts, orthotics, and mobility aids may be used for children with poor balance and coordination to reduce falls and improve their participation in games and activities.
TMDs (like jaw popping/clicking, limited or excessive mouth opening, and pain in the jaw) are thought to be present in 70% of people who have EDS. Mouth guards and mouth plates can improve alignment and decrease teeth grinding, however they can cause easy oral wounding as well. Displaced neck bones from hypermobility may result in TMDs since these areas are closely connected. In one study 71% of people of people with EDS who had TMDs also had cervical spine disorders. To prevent these issues as much as possible, it’s important for people to maintain good posture and avoid excessively hard foods.
Note: Cartilage defects can lead to collapse in facial features and jaw alignment, which can lead to poor breathing patterns and sleep disturbances.
It is important to note that pain is an important aspect of EDS. Studies show that 90% of people who have EDS have chronic pain. Children and adults with EDS may experience hyperalgesia, which is hypersensitivity to painful areas due to an increased nervous system response. Children with EDS typically complain of pain in the shoulder and knees after exercises. Sometimes, children will withdraw from games and activities in school because of exercise-induced pain and injury, which has a sizable psychosocial impact. Pain may be due to subluxations or dislocations of joints, tissue injuries, muscle weakness, instability in the spine, and more. Treating pain through light movement, mindfulness exercises, and modalities like heat and ice can alleviate pain.
People with EDS encounter a complex set of unique challenges. Because of the varying degree of symptoms, it can be difficult to diagnose and treat the condition. Seeking help from a counselor or psychologist can help if living with EDS is overwhelming. While the syndrome itself cannot be cured due to its genetic nature, it is important to note that there are plenty of actions to be taken to prevent, reduce, and manage symptoms.