Ehlers-Danlos Syndrome (EDS): 13 Different Types Explained

Ehlers-Danlos syndrome is a rare disorder that occurs in one out of every 5,000 people worldwide. It causes hyper flexibility in joints and skin from a lack of collagen, leading to complications.

Key takeaways:

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic condition that affects the body's connective tissue. Connective tissues include cartilage, ligaments, bone, organs, and blood vessels. The connective tissue becomes weakened, causing damage to the body in different ways.

EDS is classified into 13 different types based on the type of symptoms that show. Commonly, people have loose joints and skin that tears easily. However, there is a wide range of symptoms that occur with the different types.

Different types of EDS

Type of EDSSymptoms
1. ClassicFragile, stretchy skin and extensive scarring
2. HypermobileGeneralized hyper joint mobility, joint instability, and chronic pain
3. Classic-likeStretchy smooth skin, foot deformities, and leg swelling
4. VascularExcessive bruising, blood vessel fragility, organ rupturing, and lung collapse
5. Cardiac-valvularSevere heart valve insufficiency
6. ArthrochalasiaSevere joint hypermobility and bilateral hip dislocation
7. PeriodontalSevere gum disease and tooth loss
8. KyphoscplioticEarly onset of a sideway curvature of the spine
9. SpondylodysplasticShort stature, muscle weakness, limb bowing, craniofacial features
10. Brittle cornea syndromeSevere complications with corneas and hearing loss
11. MusculocontractureMultiple muscle contractions and craniofacial features
12. DermatosparaxisSeverely fragile and loose skin, severe bruising, short limbs, and craniofacial features
13. MyopathicLow or absent muscle tones and joint contractions

Signs and symptoms of EDS

Symptoms of EDS include hypermobility of joints, instability of joints, soft and thin skin, and excessive bruising. The type of EDS will dictate what types of symptoms you experience. However, EDS does have some common symptoms across the different types.

Loose or hyperflexible joints

One common symptom among the different types of EDS is the hyper flexibility of joints. When a joint is hyper flexible, it has greater movement than other persons might. The lack of collagen affects the tendons and cartilage in the body, causing the joints to have excess movement.

The greater range of motion in joints can cause pain or discomfort during physical activities. In some cases, it can also lead to an increased risk of dislocating a joint. In younger children, this may cause issues in the development of muscles and nerves when growing.

Fragile or stretchy skin

The lack of collagen can cause skin to be stretchy and almost elastic. This causes the skin not to bounce back as it should, causing loose skin and skin folds. This is common among most types of EDS, but affects Classic EDS and dermatosparaxis the most.

Other symptoms

Other Common symptoms may include the following:

  • Easy bruising;
  • Muscle pain;
  • Physical fatigue;
  • Skin folds in areas that frequently move, like around the face;
  • Growths around knees and elbows;
  • Complications with heart valves;
  • Degenerative joint disease;
  • Premature osteoarthritis;
  • Thin skin and lips.

People with EDS often have chronic joint pain and can dislocate joints easily. Due to the lack of collagen in the body, it may take extra time for wounds to heal, causing prominent scarring and excess time for surgical wounds to heal.

Causes

EDS can be genetically passed down from parents, which is considered a hereditary condition. It is caused by a defect in collagen due to a faulty gene, leading to weak or abnormal collagen levels. The decrease in collagen levels causes weak connective tissue. This can affect different types of tissues in the body and their ability to function, including organs and support muscles.

Diagnosis of EDS

To be diagnosed with EDS, your physician will run a series of tests and assessments. People with EDS often have difficulty being diagnosed due to a lack of awareness about this rare condition.

  • Family history. It plays a significant factor in diagnosis, as EDS is usually an inherited genetic condition passed down from the mother and father.
  • Genetic testing. This can be done through a blood sample to test for specific genetic markers for the condition.
  • A biopsy. This can be done on the skin or connective tissue to check for genetic mutation.
  • Physical exams. These may be performed by the physician, testing for the elasticity of your skin and joint flexibility.
  • An echocardiogram. This is a special heart ultrasound that can see if there are any complications with the connective tissue and valves.

EDS treatment options

There is currently no cure for EDS, so treatment surrounds being active in preventing complications and injury:

  • Vitamin C supplementation. To protect the skin, it is recommended to take vitamin C to prevent bruising. It is also recommended to use sunscreen and mild soaps to avoid drying out the skin, making it more fragile.
  • Physical therapy. It can be used to help strengthen joints and prevent joint injuries from occurring. If damage occurs to the joints, surgery may be needed to repair them.
  • Blood pressure medication. Vascular EDS can lead to weakened blood vessels. Blood pressure medication can be used to keep blood pressure low and stable if there is a risk of blood vessels being damaged.
  • Cautiousness when exercising. Joint injuries are common in people with EDS, so people with it are advised to avoid heavy lifting, high-impact exercises, and contact sports. If needed, protective devices can be used to provide extra support to joints.

Life with EDS

Most forms of EDS do not affect a person's life expectancy; however, certain types can be life-threatening. People who have classic or hypermobile EDS may have a perfectly average lifespan. While other forms, such as vascular EDS, can cause the tearing of blood vessels leading to a stroke or internal bleeding.

The chances of organ rupture are higher in people with EDS. A pregnant woman may suffer from a uterus tear, leading to life-threatening complications for the mother and the baby. Another common organ rupture with EDS is intestinal tears. Intestinal tears can cause severe complications that need immediate surgery.

Other complications can include Heart valve complications, spine curvature, thinning of corneas, bowed limbs, and defects of teeth and gums. The type of EDS and its severity will determine the outlook of the person's life who is affected.

With proper treatment of symptoms and physical therapy, people with EDS can enjoy a healthy everyday lifestyle. If you have or suspect you have EDS, speak with your doctor about treatment options and what can be done to improve your quality of life.

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