Ehlers–Danlos Syndrome

February 7, 2017

Ehlers-Danlos syndrome (EDS) is a genetic disorder in which the structure of connective tissue is abnormal due to a gene mutation. This results in abnormally fragile and hyper-extensible tissues throughout the body which can lead to a range of multi-systemic symptoms; the effect on the body is widespread and not limited to one body system.

People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is defined as a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.

Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.

At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests EDS is more common. The condition is known to affect both males and females of all racial and ethnic backgrounds.

Types of EDS

There are several different types of Ehlers-Danlos syndrome, each with its own set of features and complications. The most common form of Ehlers-Danlos syndrome is Ehlers-Danlos Hypermobility Type. It is characterized by loose joints and chronic (long-term) joint pain. Other forms of Ehlers-Danlos syndrome can involve serious and potentially life-threatening complications. These include –

  • Vascular Ehlers-Danlos syndrome, which can cause blood vessels to tear (rupture) unpredictably. This can lead to internal bleeding, stroke, and shock. Vascular Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy.
  • Kyphoscoliosis form of Ehlers-Danlos syndrome, which is associated with severe, progressive curvature of the spine that can interfere with breathing.


EDS is, in most cases an inherited condition, while a minority of cases are not inherited (meaning that they occur via spontaneous gene mutations).


Defects in the following genes cause EDS. All of these genes provide instructions on how to assemble collagen — except for ADAMTS2, which provides instructions for making the proteins that work with collagen.

  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL6A2
  • PLOD1
  • TNXB

Defects in these genes weaken the process and formation of collagen. Collagen is made up of molecules that give structure to connective tissues in the body.


The symptoms of EDS vary depending on the type of disorder, and can range from mild to life threatening. Some of the common symptoms include –

  • Hypermobility in the hands, fingers and toes
  • Loose joints that are prone to sprains, dislocations and double-jointedness
  • Flat feet
  • A high narrow palate with dental crowding
  • Pale, smooth skin that bruises easily
  • Skin that stretches easily
  • Wounds that don’t heal easily and with abnormal scarring
  • Hernias
  • Myalgia and arthralgia
  • Muscle weakness, especially when cold
  • Early onset osteoarthritis

Some of the less common symptoms include –

  • Low bone density
  • Scoliosis
  • Irritable bowel syndrome
  • Carpal tunnel syndrome
  • Hearing loss
  • Delayed motor skills in infants
  • Large eyes, small chin, thin nose and lips
  • Small stature


Possible complications of Ehlers-Danlos syndrome include –

  • Chronic joint pain
  • Early-onset arthritis
  • Failure of surgical wounds to close (or stitches tear out)
  • Premature rupture of membranes during pregnancy
  • Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
  • Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)
  • Rupture of the eyeball


Current treatment options for EDS include –

  • Celiprolol, a beta 1-adrenoceptor antagonist with a beta 2-adrenoceptor agonist action, has been used to prevent arterial dissections and ruptures in patients with vascular EDS. It is thought to act via a reduction in vascular haemodynamic stress with exercise and/or through a reduction in transforming growth factor-b. Patients with EDS vascular type may also benefit from the surgical treatment of complications.[13]
  • Trauma should be minimised and protective clothing and padding may help. For patients with skin and soft tissue fragility, extra care (eg, non-tension sutures to skin, deep double sutures to other wounds, leaving stitches in for twice the normal time) should be taken when repairing injuries.
  • Children with hypotonia and delay in motor development should receive physiotherapy.
  • Physiotherapy will also be useful for adult patients with joint hypermobility problems. Anti-inflammatory tablets and analgesics may be required to control pain.
  • Ascorbic acid is sometimes recommended to lessen the risk of spontaneous bruising.
  • Genetic counselling should be provided.

Alternative Treatment

Magnesium is mandatory for regulation of synthesis and degradation of collagen and elastin, proteoglycans, and glycoproteins. Thus, since connective tissue is already the issue at hand in EDS, it is easy to understand how a deficiency of magnesium further negatively affects connective tissue health.

Vitamin C may help decrease bruising and aid in wound healing.

Methyl sulphonyl methane (MSM) and Silica is a combination supplement required by the body for the formation of bone, and collagen in connective tissue (cartilage, tendons, ligaments), and for healthy skin, hair and nails. MSM and silica help maintain the flexibility of joints and arteries, and inhibit the development of cardiovascular disease and osteoporosis.

Pycnogenol (from pine bark extract) is an alternative term for proanthrocyanidins, chemical substances belonging to one of the most beneficial groups of plant flavonoids. Pycnogenols decrease capillary permeability and fragility, and inhibit the development of venous insufficiency and varicose veins. Pycnogenol helps maintain the strength, flexibility and suppleness of skin.

Glucosamine is a sugar-related nutrient used within the body to form more complex molecules, which are necessary for the maintenance and repair of connective tissue and joints.

Carnitine is an amino acid like substance which is important in the metabolism of fat and energy production within the body, and promotes normal heart and skeletal muscle function. Carnitine supplements increase the tolerance of muscle to physical exercise, and help prevent exercise induced muscle pain and muscle weakness.

Coenzyme Q10 is a vitamin like substance which plays a key role in the body’s energy supply mechanisms, acting in conjunction with enzymes (hence the name coenzyme Q10) to convert sugars and fat into energy. Coenzyme Q10 promotes normal cardiovascular function, and has been used to counter the effects of cardiac mitral valve prolapsed.

Calcium is the most abundant mineral in the human body, and is responsible for maintaining healthy bones and teeth and inhibiting the development of osteoporosis. The skeleton acts as a reservoir for calcium; if the intake of calcium is insufficient, bones become depleted in calcium and osteoporosis develops.

Yoga and other stretching activities can also tighten and realign the body’s structure and relieve pain.


Reference –’s-health-issues/hereditary-connective-tissue-disorders/ehlers-danlos-syndrome