PT Classroom - Ehlers-Danlos Syndrome and Physical Therapy Implications ׀ by Sarah Meuler, DPT

Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders that collectively affects nearly 1 in 5,000 people worldwide (U.S. National Library of Medicine, 2011). As physical therapy professionals, we may encounter more than a handful of patients with EDS during our careers. Due to the musculoskeletal and integumentary symptoms that patients with EDS present with, it is important to have a strong clinical knowledge of the disorder. (Image courtesy of JohnGohn (a) Normal collagen fibrils are of uniform size and spacing. (c) Fibrils from a patient with classical EDS may show composite fibrils (arrows))

This inherited disorder is caused by gene mutations that decreases the function of collagen within the body. Collagen is a protein that provides structural support to connective tissues including skin, tendons, ligaments, blood vessels, and organs (A.D.A.M Medical Encyclopedia, 2010). A full life span is expected for individuals with most types of EDS, but the daily functioning of some individuals is greatly altered. Unfortunately, EDS is not a well-known disorder among the physical therapy community. More often than not, EDS will be a secondary diagnosis that will influence our functional outcomes while treating an acute injury, pain or instability. It is important for physical therapists to become more aware of this disorder and modify treatments accordingly to allow patients to reach their full rehab potential.

There are six recognized types of connective tissue disorders that can manifest in individuals with EDS. The types are categorized by specific gene mutations and the signs and symptoms of the connective tissue disorders. The six types are: arthrochalasia, classic, dermatosparaxis, hypermobility, kyphoscoliosis, and vascular. Three of the most common types are described in Table 1 along with physical therapy implications. Although variable by type, the most common symptoms of any kind of EDS is joint hypermobility and increased skin elasticity (Mayo Clinic Staff, 2010).

In many cases, EDS can be diagnosed through symptoms and family history. Genetic testing, skin biopsies to analyze collagen, and echocardiograms to check heart health and valves may also be indicated at times to determine the type of EDS present (Mayo Clinic Staff, 2010). Due to the decreased knowledge of EDS treatment, physical therapists are in a position to be an important advocate for a patient or client with EDS in both the outpatient and inpatient settings. In the inpatient setting, it may be appropriate to educate caregivers and/or nursing staff on proper bed mobility and transferring of the patient as to avoid shearing and skin tearing of the already weakened integumentary system. In the outpatient setting, being aware of increased joint laxity is important when attempting to regain limited ROM. Excessive end-range motions should be avoided to prevent dislocations and joint pain. Without the collagen protection to keep the joint capsule strong, individuals with EDS may also develop early onset of arthritis and joint pain (Mayo Clinic Staff, 2010). Grade I-II joint mobilizations may be indicated for pain relief, but high grades should be avoided to limit unnecessary stress on the joints. A focus on joint stabilization exercises may help other surrounding muscles support the unstable joint. Physical therapy can also help in the treatment of arthritis through pain management and strengthening exercises to help protect arthritic joints (Mayo Clinic Staff, 2010). In extreme cases, braces may be used to stabilize joints to increase function with daily activities.

Individuals with vascular EDS have a bigger risk of developing complications secondary to the frailty of blood vessels and organs. These complications can be life threatening and can include aortic dissection, organ rupture, and uterine rupture. Pregnancy can be dangerous for an individual with vascular type EDS due to the increased stress on blood vessels and organs, thus increasing the risk of the above complications (U.S. National Library of Medicine, 2011). Exercise modifications may be indicated when treating a patient with vascular type EDS as to not over-stress blood vessels. Vitals should be monitored during treatment and proper rest breaks should be given based of the cardiac demands of the exercise. The median life expectancy age is 48 years old among people with vascular type EDS due to the severity of complications (Mayo Clinic Staff, 2010).

People with Ehlers-Danlos syndrome require a variety of health care professionals to be knowledgeable about specific signs, symptoms, and complications of the disease to be able to provide a comprehensive continuum of care. Physical therapists may sometimes be the first health care professionals to really spend time with patients to recognize symptoms of hypermobility and increased skin elasticity. This allows us as physical therapists to advocate for patients/clients with suspected EDS and properly refer to other health care professionals.

For more information please visit the Ehlers-Danlos National Foundation at www.ednf.org.