What is EDS?
Ehlers–Danlos syndromes (EDSs) are a group of genetic connective tissue disorders. Symptoms may include loose joints, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. There are many Complications, that may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
EDSs are due to a mutation in one of more than a dozen different genes. The specific gene affected determines the specific EDS.]Some cases result from a new mutation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. This results in defects in the structure or processing of collagen. The diagnosis may be confirmed with genetic testing or a skin biopsy. People may be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.
No cure is known. Treatment is supportive in nature. Physical therapy with bracing, taping may help. Specific strengthening exercises to help muscles and support joints. While some disorders result in a normal life expectancy, those that affect blood vessels may result in a shorter life expectancy.
How we treat EDSs
We live by our promise by meeting our patients where they are and help them move forward. All patients have unique psychosocial and emotional concerns related to their condition. With EDS patients, these often these issues are magnified due to the unique nature of their condition. EDS patient have often had multiple surgeries and have seen many different providers. EDS patients will commonly report not being taken seriously due to the fluctuating and wide-ranging nature of their symptomology.
We first start with a comprehensive PT evaluation which includes a complete medical history, general visual assessment of gait, posture and attitude, AROM testing, Beighton Mobility Scale Testing, Neurovascular assessment, and specialized tests. From here we discuss goals for treatment and create a plan of care.
Our standard plan of care is then individualized to each patient but typically includes these protocols, Levine Cardio Protocol, strengthening, endurance training, stability, vascularization, mobility, stability, and home exercise program.
Types of EDS
Hypermobile EDS (type 3 hEDS) is characterized primarily by joint hypermobility affecting both large and small joints, which may lead to recurrent joint dislocations and subluxations (partial dislocation)
Classical EDS (type 1 cEDS) is associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility.
Vascular EDS (type 4 vEDS) is 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. joints (fingers, toes).
Kyphoscoliosis EDS (type 6 kEDS) is associated with severe hypotonia 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 (low bone density
Arthrochalasia EDS (types 7A & B aEDS) is characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising, hypotonia (decreased muscle tone), kyphoscoliosis (kyphosis and scoliosis), and mild osteopenia (loss of bone density).
Dermatosparaxis EDS (type 7C dEDS) is associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. It is extremely rare, few cases reported.
Brittle cornea syndrome is characterized by thin corneaa, early-onset progressive keratoglobus (cornea becomes extremely thin and change to a more globular shape than its normal gradual curve.) or keratoconus (begins to bulge into a cone-like shape), and blue sclerae (the white of the eye) Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often.
Classical-like EDS (type 1 cEDS) is characterized by skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility 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) is characterized by short stature (progressive in childhood), muscle hypotonia (ranging from severe congenital, to mild later-onset), and bowing of limbs
Musculocontractural EDS (mcEDS) is 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, bruising, skin fragility with atrophic scars, and increased palmar wrinkling.
Myopathic EDS (mEDS) is 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) is 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) is 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).