Ehlers-Danlos Syndrome2019-01-06T13:32:04+00:00

 

“When you hear hoofbeats think horses, not Zebras.” This is taught in medical training to think “common” not “uncommon” for making diagnoses.

Ehlers Danlos Syndrome (“EDS”) patients have chosen the zebra as the mascot as the current medical community is commonly misdiagnosing this condition as unrelated individual disorders (frequent ankle sprains, dry skin, easy bruising), therefore missing the correct EDS diagnosis.  Commonly these patients end up having several unnecessary procedures and surgeries with poor outcomes, thus referred on to the next specialist- all without correct management.

Our goal at Premier Therapy is to be one of the providers in the EDS medical team to provide education, information and much needed answers.  The EDS diagnosis does not mean you are destined to a life of pain and inactivity.  During physical therapy, you will receive information on all considerations of long-term EDS management: exercise, medications, supplements, and pain management.

There are 6 major types that correlate with the signs and symptoms that appear. They all share joint laxity, soft skin and easy bruising.

Hypermobility

Frequent subluxations and dislocations of both small and large joints are prevalent. Most common are shoulder, patella (knee) and temporomandibular joint (jaw). Chronic pain is common due to muscle spasms creating trigger points (similar to knots in muscle) and degenerative arthritis. Neuropathic “nerve” pain is also a common presentation.

Classical

Stretchy skin with hypermobility at joints is common in Classical Ehlers Danlos Syndrome. These patients tend to have a poor time healing. Sprains, subluxations/dislocations and flat feet are common as well with this type.

Vascular

This is the most serious form of EDS due to the possibility of organ or arterial rupture. Veins are more visible through this skin at chest and abdomen. There are facial manifestations that include: large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Excessive bruising can occur with the mildest of trauma. Arterial rupture is the most common cause of sudden death. Life expectancy is in the forties due to chance of arterial or organ rupture. Pregnancies can cause complications and should be closely monitored.

Kyphoscoliosis

This type has generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth which can delay gross motor development of children. Scoliosis, an abnormal curvature of the spine, is present at birth. Similar to some of the other types of EDS, arterial ruptures and atrophic scars can occur. This type occurs when there is a deficiency of the enzyme lysyl hydroxylase.

Arthrochalasia

This type primarily deals with congenital hip dislocation and has been biochemically proven. This also presents the skin hyperextensibility with easy bruising. Atrophic scars, muscle hypotonia, and kyphoscoliosis are also common with this type.

Dermatosparaxis

Severe skin fragility and substantial bruising is common with this type of EDS. Although wounds heal normally, no atrophic scarring. This skin is described as soft and doughy with increased risk of large hernias.

 

If you or a loved one are struggling with EDS management, we look forward to working with you to answer all your questions.

Call (402)933-0100 to schedule an appointment with one of our expert physical therapists.