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Classical Ehlers-Danlos Syndrome

Living with classical Ehlers-Danlos syndrome (cEDS) can be challenging. Your skin bruises and scars more easily than others. Your joints hurt or give out in ways that are hard to explain. It can be frustrating, especially when the condition isn't visible to the people around you.

You deserve care from a team that understands what you're dealing with. At UVA Health, we'll work with you to build a treatment plan that fits your body, your goals, and your life.

Why Choose UVA Health for Classical EDS Care?

Because cEDS affects your connective tissue, which is all through your body, managing it well takes a team. At UVA Health, geneticists, physical therapists, and other specialists work together, and with you, to make sure nothing gets missed.

We see patients at every age, from young children just getting a diagnosis to adults managing long-term symptoms. Our goal is to give you the tools and knowledge to protect your body, prevent setbacks, and get the most out of life.

If you think you or your child may have cEDS, reaching out early matters. Getting the right diagnosis is the first step toward a care plan that actually fits your life.

What Is Classical Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of 13 genetic connective tissue disorders. Classical EDS is one of the more common types. It mainly affects your skin and joints.

In cEDS, the collagen fibers in your body don’t form together the way they should. This makes the connective tissue in some areas weaker than normal. Your skin may stretch far past what is typical (called hyperextensibility). Your joints may be able to move past their normal range of motion (called hypermobility). This can lead to dislocations, chronic pain, and fatigue.

Symptoms vary from person to person, even within the same family. Some people notice problems in early childhood. Others may not get a diagnosis until they're adults. Common symptoms include:

Common skin symptoms:

  • Very stretchy skin that feels smooth or velvety
  • Skin that splits or tears easily, even from minor bumps or falls
  • Wide, thin scars that look like “tissue paper,” especially on the knees, shins, elbows, forehead, and chin
  • Easy bruising, sometimes with lasting discoloration

Common joint symptoms:

  • Joints that move beyond their normal range (hypermobility)
  • Dislocations or partial dislocations (subluxations)
  • Chronic joint and muscle pain
  • Flat feet

cEDS can involve other body systems too. Other symptoms include:

  • Long-term fatigue
  • Small, hard lumps under the skin (spheroids), often near the forearms or chin
  • Hernias
  • Nausea, acid reflux, or constipation
  • Extra skin around the eyelids (epicanthal folds)

How Is cEDS Diagnosed?

Just having any one of the symptoms above isn't enough to make a diagnosis. Diagnosing cEDS requires:

  • Physical exam and history
    • Your doctor checks for key signs like stretchy skin, atrophic scars, and joint range of motion
  • Beighton score
    • A 9-point scoring system that measures joint flexibility
    • A score of 5 or higher for adults under 50 points to hypermobility
  • Genetic testing
    • A blood or saliva test looks for changes in the COL5A1 or COL5A2 genes. Genetic changes are found in about 90% of cEDS cases.
  • Skin biopsy: If genetic testing is inconclusive, a small skin sample can be examined under a microscope. In cEDS, the collagen fibers take on an unusual shape that doctors call “collagen flowers.”

Treating Classical EDS

Because cEDS affects so many parts of the body, treatment is rarely one-size-fits-all. Care focuses on managing symptoms, preventing injury, and protecting your skin and joints over the long term. Your team at UVA Health will build a plan around your specific needs, which may include:

  • Medication & pain management
    • Medications to manage chronic joint and muscle pain
    • Supplements that may support collagen production and wound healing
    • Medications to protect fragile blood vessels, when needed

  • Physical and occupational therapy

    • Physical therapy to build muscle strength around unstable joints and reduce dislocation risk

    • Core-strengthening exercise, like Pilates, to give joints more support

    • Occupational therapy to help you find safer ways to do everyday tasks and manage fatigue

  • Wound & skin care

    • Prompt wound closure, ideally by a plastic surgeon, to minimize scarring

    • Sutures left in place longer than usual — roughly twice as long as standard — to allow proper healing

    • Practical skin protection strategies, including layered clothing, padding during activities, and daily sunscreen

  • Genetic counseling

    • Counseling for you and your family to understand inheritance and plan ahead

    • Testing for family members who may also carry the gene change

What Causes Classical EDS?

cEDS is caused by a change — called a mutation — in the COL5A1 or COL5A2 gene. These genes are responsible for making type V collagen. When one is changed, the body produces less type V collagen, and the structure of connective tissue is weakened.

In cEDS, inheriting just one changed copy of the gene, from either parent, is enough to cause the condition (it follows an autosomal dominant inheritance pattern). Each child of an affected parent has a 1 in 2 chance (50%) of inheriting it. Sometimes cEDS appears in someone with no family history at all.

Connective Tissue Disorders