Ehlers-Danlos Syndrome Overview

Learn more about this genetic connective tissue disorder, featured by loose joints and stretchy skin, among other symptoms.

Ehlers-Danlos Syndrome (EDS) is a term describing a group of genetic disorders causing defects in connective tissue, that is, a type of tissue that connects or supports other organs and tissues. Specifically, different defects in collagen, a protein found in connective tissue that gives strength and flexibility to connective tissue, is present. The defect may either be due to weakness or insufficient amounts of collagen. It can affect the skin, muscles, and ligaments.

There are 13 different types of EDS, each defined by its major features and effects on the body. Signs and symptoms of the disorder may emerge as early as childhood, lasting through an individual’s lifetime. However, several factors, including the type of EDS and its severity, affect the timing of the diagnosis.

The most common type of EDS is Ehlers-Danlos hypermobility, or hypermobile EDS (hEDS). Approximately 1 in 5,000 to 20,000 individuals live with this form of the disorder. “Once thought to be rare, EDS – at least the hypermobile form – is quite common. It can be hard for people to get a diagnosis because problems from EDS can be attributed to a number of more familiar conditions, such as arthritis, clumsiness, anxiety, migraines, or irritable bowel syndrome,” David Saperstein, MD, a practicing neurologist and director of the Center for Complex Neurology, EDS, and POTS in Phoenix, Arizona, told PPM.

Complications from EDS may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. (Source: 123RF)

Diagnosis

A medical doctor can diagnose EDS, beginning with a thorough history and physical exam, including questions about your family.

“Since EDS can produce a lot of problems, it is best to make a list of what you want to discuss with the doctor and rank them in order of importance to you, as you may not be able to cover everything in the first visit,” Dr. Saperstein advised. “If you are not seeing a doctor well-versed in EDS, you should focus on very specific symptoms of problems.”

Your doctor may utilize additional tools to confirm suspicion of an EDS diagnosis. For example, genetic testing may be performed using a blood sample. “The most common forms of EDS cannot be detected with genetic testing, and therefore, diagnosis is most often made on a clinical basis,” Dr. Saperstein mentioned.

Other tests may be ordered for additional information, including imaging tests such as X-rays, ultrasounds, computerized tomography (CT) scans, and magnetic resonance imaging (MRI). Such tests may provide information on organ function, including the heart and bones.

Symptoms

The presentation of EDS is wide and varied.  The most common features shared among the different types are:

  • joint hypermobility, that is, the ability of joints to extend further than their normal range of motion
  • overly elastic, or stretchy skin
  • easily bruised skin, in part due to fragile blood vessels
  • poor healing of wounds.

Patients with EDS often experience symptoms unrelated to skin and joints, including lightheadedness, rapid heart rate, headache, and digestive issues.

Serious problems can occur in some patients when certain organ systems are affected, such as the heart. Collagen may be found throughout the heart, which can result in problems such as:

  • dysfunction of the heart valves
  • aortic dilatation, or widening of the aorta, a major vessel in the heart
  • aortic dissection, a severe tear in the wall of the aorta.

Some symptoms may be seen in one type of EDS but not another. Hypermobile EDS is characterized by loose, flexible joints that dislocate often and lead to chronic joint pain, whereas patients with classical EDS, another common type of EDS, characteristically have velvety, or “doughy” skin that is both fragile and elastic. Vascular EDS is characterized by spontaneous rupture of blood vessels, sometimes resulting in internal bleeding or shock.

Treatment

Doctors approach EDS treatment with two major goals: preventing complications and protecting the patient from injuries. Treatment plans are individualized to each patient’s presentation.

Dr. Saperstein explained how a team of different specialists may be needed, usually “quarterbacked” by a primary care doctor to coordinate your care:

  • A rheumatologist, or a physiatrist should be able to help with joint issues
  • A cardiologist to help with racing heart rate and light-headedness
  • A gastroenterologist for stomach issues
  • A dentist for jaw clenching.

Examples of interventions include over-the-counter (OTC) medications or prescription drugs to relieve joint and muscle pain, blood pressure medications to prevent damage of fragile blood vessels, or surgery for patients who experience repeated joint dislocations.

Patients with EDS should consider physical therapy for a specialized exercise regimen to strengthen the muscles and protect the joints. Heavy lifting, high-impact exercises, and contact sports are not recommended. Some patients with EDS elect to wear braces. Other self-care measures that can be beneficial include skin care through the use of mild soaps and sunscreen, and taking vitamin C to reduce skin bruising.

“[T]here are a number of things that can be done to improve EDS and its complications…but improvement will occur in small increments and this will take time,” Dr. Saperstein said.

Counseling and support groups are recommended to patients living with EDS. “It can be hard having EDS because many of the problems are ‘invisible.’ You may look fine to your family and friends and even your doctors. This can lead to them not understanding why you are having so many difficulties. You will need to advocate for yourself,” Dr. Saperstein suggested. 

Updated on: 04/03/19
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