Ehlers-Danlos Syndrome Symptoms, Causes & Treatment Options

Ehlers-Danlos syndrome is a group of connective tissue disorders that are characterized by extra flexibility or hypermobility of the joints which can lead to developmental delays in children and easy bruising.

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Contents

  1. Overview
  2. Symptoms
  3. Potential Causes
  4. Treatment, Prevention and Relief
  5. When to Seek Further Consultation
  6. References

What Is Ehlers-Danlos Syndrome?

Summary

Ehlers-Danlos syndrome is a genetic disorder that affects the connective disuse of the body. Connective tissue is important for many different organs and organ systems within the body, so depending on the severity of the type of Ehlers-Danlos syndrome that is inherited, many different body systems and organs can be affected. Commonly, the skin, joints, and bones may be affected, but in some cases, the blood vessels, heart, muscles, and early childhood development can be affected by Ehlers-Danlos syndrome.

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Ehlers-Danlos Syndrome Symptoms

The most common symptoms of Ehlers-Danlos syndrome are skin and joint symptoms, but there are 13 types of Ehlers-Danlos syndrome, and each has its own series of symptoms disorders and prognoses.

  • Hypermobility: One of the most common symptoms of Ehlers-Danlos syndrome is hypermobility of the joints, including the elbows, knees, fingers, and toes. Joints are often flexible and have a range of motion significantly larger than those not affected by Ehlers-Danlos syndrome. This can cause continual dislocations and misalignment of the spine or deformation of the bones of the chest.
  • Delayed early development: Ehlers-Danlos can cause weakened muscles in small children. For proper development, basic muscle strength is required; because of this, in some cases of Ehlers-Danlos, it isn’t uncommon for children to have some delay in motor skills like walking, cruising, or standing. Additionally, children may have some pain or dislocation of one or both hips at birth which can delay walking and learning in early childhood.
  • Wound healing: Ehlers-Danlos is caused by a defect in one of the genes that make collagen, which is a common connective tissue that has to be recreated during healing. As a result, after an injury, individuals with Ehlers-Danlos syndrome may take longer to heal and their scars are frequently thin in depth and differ from skin prior to the wound.
  • Easy bruising: Collagen, which is often defective in Ehlers-Danlos syndrome, is one of the connective tissues used to strengthen small and large blood vessels. When it does not work well, it can lead to easy breaking of blood vessels with minimal force. When blood vessels break, bruising occurs.
  • Dermatosparaxis: Dermatosparaxis is a medical term for loose or excess skin. Individuals with Ehlers-Danlos syndrome may have loose skin because of a lack of connective tissue that adds some of the elastic characteristics of skin.

Other symptoms

The cardiovascular system, eye, muscles, spine, teeth, and gums as well as the uterus and intestine can also be affected by Ehlers-Danlos syndrome.

  • Aortic rupture: In severe cases of Ehlers-Danlos syndrome or cases where there is underlying age or a heart defect, it is possible for the aorta, the main blood vessel that provides blood to the other organs, to rupture. This is thought to be the combined effect of the lack of elasticity and strength caused by poorly-functioning connective tissue and normal wear and tear. Cardiac valves may also be affected.
  • Hypotonia: Early in development, a lack of connective tissue can disrupt the function of muscles of the core and around the spine, causing delays in gross motor skills including the ability to walk, stand, cruise, or sit up.
  • Uterine rupture: During pregnancy, as the fetus grows within the uterus, the uterus is exposed to additional pressure. Sometimes, for individuals with Ehlers-Danlos syndrome, the uterus is unable to tolerate the pressures caused by pregnancy and ruptures.
  • Brittle cornea: In rare cases, Ehlers-Danlos syndrome can cause blue sclera (the white part of the eye) and a very thin cornea that is prone to damage.
  • Gum and teeth abnormalities: Gums may recede early or suffer from inflammation without an appreciable cause.

Ehlers-Danlos Syndrome Causes

Ehlers-Danlos syndrome is an inherited disorder. It is most commonly autosomal dominant, which means an individual may only need to receive a single copy to develop the disease, but depending on the amount of non-functional genes for connective tissue, different body parts may be affected and the severity of the disease may change. Below is a list of common genes associated with Ehlers-Danlos syndrome and the type of connective tissue that they produce.

  • COL1A1: collagen
  • COL3A1: collagen
  • COL5A1/COL5A2: collagen
  • TNXB: collagen organizer
  • ADAMSTS2: collagen
  • PLOD1: collagen crosslinking
  • FKBP14: collagen precursor arrangement

Ehlers-Danlos Syndrome Symptom Checker

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Treatment Options, Relief, and Prevention for Ehlers-Danlos Syndrome

Treatment

Treatment of Ehlers-Danlos syndrome depends in large part on the type of syndrome inherited and the severity of the disease. For individuals with mild disease, physical therapy may be a way to strengthen muscles, and movement assist devices like braces, wheelchairs, and splints help individuals maintain mobility and stabilize joints. For moderate to severe cases of Ehlers-Danlos syndrome, it is important to monitor for the development of different life and limb-threatening conditions. This includes monitoring and imaging the aortic root to check for tearing or the density of the bones to check for the change of a break. Wounds may require additional dressings and dislocated joints often have to be reduced to their prior placement medically. In most cases, genotyping to discover the type of disease can inform prognosis and screening for complications later in life. Finding complications early can be essential for limiting morbidity and mortality.

Prevention

Ehlers-Danlos is a genetic disease. It is preventable only through genetic screening, which is only necessary in families at high risk for the disease (usually those with a close relative with the Ehlers-Danlos syndrome) or another genetic connective tissue disorder. Screening specifically can allow families to prepare for a child with Ehlers-Danlos, or through fertility techniques, select for eggs and sperm with the lowest risk of transmitting Ehlers-Danlos syndrome.

When to Seek Further Consultation for Ehlers-Danlos Syndrome

If you have been diagnosed with Ehlers-Danlos syndrome, you should return to your doctor if you have any new aches, pains, symptoms, or questions about your care. If you suspect that you or your child has Ehlers-Danlos syndrome, you should seek consultation from your medical provider. If you suspect a serious sequelae of Ehlers-Danlos syndrome, like an aortic rupture, you should seek medical care immediately.