Ehlers-Danlos Syndrome (EDS)

At Gillette Children’s Specialty Healthcare, our experts tailor the treatment of connective tissues disorders, such as Ehlers-Danlos syndrome, to the needs of each patient. Our experienced team of specialists in orthopedics, physical therapy and rheumatology works closely with patients to minimize pain, prevent injury and stabilize joint function.

Why Choose Gillette?

  • Gillette is the Upper Midwest’s only nationally ranked Best Children’s Hospital for pediatric orthopedics and one of the nation’s top providers of pediatric outpatient rehabilitation therapies.
  • Our interdisciplinary team offers comprehensive support for related complications, including skin issues and joint pain.
  • We believe that people who have complex medical conditions deserve facilities and services designed specifically for their needs.
  • Our experts collaborate to provide comprehensive treatment plans.

Definition

Ehlers-Danlos syndrome (EDS) refers to a group of disorders that affect connective tissues. These tissues, such as skin, joints and blood vessel walls, provide strength and elasticity to other parts of the body. People who have EDS typically have joints that are overly flexible. They sometimes have fragile, stretchy skin. When people who have EDS sustain a wound that requires stitches, the skin is often not strong enough to hold them. An even more severe form of the disorder, known as vascular Ehlers-Danlos syndrome, can sometimes cause walls of blood vessels, intestines or other organs to rupture.


Ehler-Danlos Syndrome Symptoms

The most common symptoms of EDS are:

  • Loose, overly flexible joints
  • Hypermobility in the toes, hands and fingers
  • Small, fragile blood vessels
  • Abnormal scar formation
  • Wounds that don’t heal easily
  • Abnormally stretchy, fragile skin that bruises easily
  • Hernias
  • Early arthritis
  • Flatfoot
  • Muscle weakness and pain
  • Joint pain
  • Fatty lumps at pressure points (knees and elbows)
  • Heart valve problems

Ehler-Danlos Syndrome Types, Causes and Incidence

There are six major types of EDS.

  • Hypermobility: This is the most common type of EDS.
  • Classical (Type I and II): This is one of the most common types of EDS. It causes skin fragility, easy bruising, skin hyperelasticity, joint hypermobility and scarring.
  • Vascular (Type IV): This is the most serious type of EDS because it can cause blood vessels or organs to rupture. It is extremely difficult to diagnose. People who have vascular EDS often have distinctive facial features, such as a thin nose, thin upper lip, small earlobes and prominent eyes.
  • Kyphoscoliosis (Type VI): This type of EDS causes the spine to curve severely or causes progressive scoliosis in addition to the other common symptoms of EDS.
  • Arthrochalasia (Type VII-A and B): This type of EDS is very rare. It causes generalized joint hypermobility, frequent joint dislocations, skin hyperelasticity, easy bruising, tissue fragility, low muscle tone and low bone mineral density.
  • Dermatosparaxis (Type VII-C): This type is also extremely rare. It causes severe skin fragility, easy bruising, and sagging, doughy skin.

Each type of EDS is caused by a different genetic mutation. Some forms of EDS are caused by mutations in the genes responsible for the assembly of collagen. Other forms of EDS are caused by mutations on genes that produce the proteins that interact with collagen. Normally, collagen provides the strength and structure for connective tissues in the body. Abnormal collagen, however, can weaken connective tissues, leading to the symptoms associated with EDS.

In many cases, parents pass the mutation to their children. Therefore a family history of the condition is a risk factor for developing EDS.

 


Ehler-Danlos Syndrome Tests and Treatment

At Gillette, our specialists typically diagnose EDS after reviewing the patient’s medical and family history and performing a physical examination. We might perform a genetic test using a blood or skin sample to confirm the diagnosis.

Although there is no cure for EDS, treatment can help manage symptoms and prevent additional complications.

Medication

We might prescribe medication, such as ibuprofen or naproxen, to help control pain. If joint and muscle pain is severe, we might prescribe stronger medications. In cases (such as vascular EDS), when EDS causes the blood vessels to be unnaturally fragile, we might recommend blood pressure medication to keep blood pressure low.

Physical Therapy

We might recommend physical therapy to help strengthen muscles around the joints, stabilize the joints and prevent joint dislocations.

Surgery

In rare cases, conservative treatments don’t help and the patient experiences repeated joint dislocations. Then, we might recommend surgery to repair the joint.


Ehler-Danlos Syndrome Services

Gillette offers comprehensive services for patients who have EDS. Our experts collaborate to develop custom treatment plans for every patient.

Other collaborative services related to EDS care include:

For more information about the care we offer at Gillette, search Conditions and Care.

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