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A Primer on Ehlers-Danlos Syndrome

This genetic connective tissue disorder is featured by loose joints and stretchy skin, among other symptoms.

With David Saperstein, MD

Ehlers-Danlos Syndrome (EDS) describes a group of genetic disorders causing defects in connective tissue, specifically when different defects in collagen are present, such as weakness or insufficiency. These disorders may affect the skin, muscles, and ligaments. There are 13 different types of EDS, each defined by their own major features and effects on the body. Signs and symptoms may emerge as early as childhood, lasting through an individual’s lifetime. However, several factors, including the type of EDS and its severity, may affect diagnostics.

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,” according to David Saperstein, MD, a practicing neurologist and director of the Center for Complex Neurology, EDS, and POTS in Phoenix, Arizona.

Diagnosis

Diagnosing EDS typically begins by taking a thorough history and physical exam of the patient.  Genetic testing may be used as well, however, noted Dr. Saperstein, “The most common forms of EDS cannot be detected with genetic testing, and therefore, diagnosis is most often made on a clinical basis.”

Other tests that may help with diagnosis include X-rays, ultrasounds, computerized tomography (CT) scans, and magnetic resonance imaging (MRI).

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

Symptoms

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

  • joint hypermobility
  • overly elastic or stretchy skin
  • easily bruised skin, in part due to fragile blood vessels
  • poor healing of wounds.

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

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

  • dysfunction of the heart valves
  • aortic dilatation
  • aortic dissection.

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

Treatment

Standard treatment of EDS should be individualized and is often aimed at two goals: preventing the patient from complications and furthering risk of injuries. Dr. Saperstein explained how a team of different specialists may be needed, usually “quarterbacked” by a primary care doctor to coordinate care. These include:

  • a rheumatologist or a physiatrist for joint issues
  • a cardiologist for rapid heart rate issues and lightheadedness
  • a gastroenterologist for stomach issues
  • a dentist for jaw clenching.

Examples of interventions include OTC or prescription medications to relieve a patient’s joint and muscle pain, blood pressure medications to prevent damage of fragile blood vessels, and, in some cases, surgical referrals for those patients who experience repeated joint dislocations.

Physical therapy should be considered as a means to integrate specialized exercise regimens to strengthen a patient’s muscles and protect joints. Heavy lifting, high-impact exercises, and contact sports are not recommended. Other self-care measures that may be recommended to a patient include proper 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,” Dr. Saperstein said.

Counseling and support groups may be helpful to patients with EDS as well. Like many chronic pain conditions, Dr. Saperstein noted that, “It can be hard having EDS because many of the problems are ‘invisible.’ [Patients] will need to advocate.”

Last updated on: April 3, 2019
Continue Reading:
Ehlers-Danlos Syndrome: An Emerging Challenge for Pain Management
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