Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissue, which provides strength and elasticity throughout the body. The primary characteristics of EDS are overly flexible joints, stretchy skin, and fragile tissues. There are 13 recognized types, each with varying symptoms and severity. While some individuals experience mild symptoms, others face life-threatening complications, such as the rupture of blood vessels or internal organs.
Core Symptoms and Manifestations
The core symptoms of EDS affect the joints, skin, and tissue integrity. A primary feature is joint hypermobility, where loose connective tissue allows joints to move far beyond the normal range of motion. This often leads to frequent dislocations and chronic pain. The looseness is a systemic issue that can affect any joint and is more than simple “double-jointedness.”
The skin in many individuals with EDS has significant hyperextensibility, allowing it to be stretched more than usual before snapping back into place. This elasticity is often accompanied by a soft, velvety texture. However, this same skin is also exceptionally fragile, bruising easily and tearing from minor trauma. Wounds often heal slowly, resulting in wide, atrophic scars that have a thin, crinkled appearance.
This underlying tissue fragility extends beyond the skin, impacting structures throughout the body. Blood vessels can be delicate, leading to easy bruising. In some forms of EDS, there are risks of hernias or damage to internal organs, meaning the condition can have serious internal consequences.
The Different Types of Ehler-Danlos Syndromes
Ehlers-Danlos syndrome includes 13 subtypes, each with a unique genetic basis and clinical profile that vary in severity. Understanding the most prevalent types—Hypermobile, Classical, and Vascular EDS—provides a clear picture of the syndrome’s spectrum.
Hypermobile EDS (hEDS) is the most common type. Its main feature is generalized joint hypermobility, leading to recurrent subluxations and full dislocations. People with hEDS often experience chronic pain, fatigue, and soft skin that bruises easily, though significant skin hyperextensibility is less pronounced. Digestive issues, such as heartburn and constipation, and problems with autonomic functions are also common.
Classical EDS (cEDS) is distinguished by more extreme skin involvement. Individuals have marked skin hyperextensibility and fragile, velvety skin that splits easily. Wound healing is impaired, leading to wide, atrophic scars. While joint hypermobility is present, the skin manifestations are the most prominent feature, caused by mutations in genes for type V collagen.
Vascular EDS (vEDS) is a rare and severe type impacting blood vessels and internal organs, caused by defects in the gene for type III collagen. This fragility can lead to the spontaneous and potentially fatal rupture of arteries, the bowel, or the uterus. People with vEDS may have characteristic facial features, including a thin nose and upper lip, small earlobes, and prominent eyes. Their skin is often thin and translucent with highly visible blood vessels.
The Diagnostic Process
Diagnosing EDS begins with a clinical evaluation, including a detailed personal and family medical history to find patterns of symptoms. A physician then performs a physical examination focusing on the condition’s hallmark signs. The assessment is guided by specific diagnostic criteria established for each of the 13 subtypes.
The physical exam includes assessing joint hypermobility, often using the nine-point Beighton score which measures mobility of the pinky fingers, thumbs, elbows, knees, and spine. A score of five or higher in adults indicates generalized joint hypermobility. The clinician also examines the skin for hyperextensibility, fragility, and abnormal scarring.
For most types of EDS, a diagnosis can be confirmed through genetic testing. A blood sample is analyzed to identify mutations in the genes known to cause specific forms, such as for classical or vascular EDS. However, for Hypermobile EDS, there is no known genetic marker. The diagnosis of hEDS is therefore clinical, based entirely on meeting the strict set of criteria from the physical examination and history after all other possible conditions have been ruled out.
Managing Life with EDS
As there is no cure for Ehlers-Danlos syndrome, management focuses on preventing complications and alleviating symptoms. This requires a personalized strategy tailored to the individual’s specific type and symptom severity. A coordinated care plan often involves a team of medical specialists to address the condition’s multifaceted nature.
Physical therapy is a primary component of managing EDS, particularly for joint hypermobility. Exercises are designed to strengthen the muscles surrounding joints, which improves stability and reduces dislocations. Low-impact activities like swimming or Pilates are recommended over high-impact sports. Occupational therapy can also help by providing strategies and adaptive equipment for daily tasks.
Pain management is another focus, as chronic pain from joint instability and muscle fatigue is common. Management may include medications, but non-pharmacological approaches are also emphasized. These can include physical therapy, bracing to support unstable joints, and cognitive-behavioral therapy to help cope with chronic pain.
Lifestyle adjustments are often necessary to protect fragile tissues and prevent injury. This may involve avoiding activities that put excessive stress on the joints or skin and being vigilant about wound care. Because EDS can affect multiple body systems, the care team may include specialists such as:
- A rheumatologist
- A cardiologist to monitor for vascular issues
- A gastroenterologist for digestive problems
- A pain management specialist