Ehlers Danlos vascular type

Ehlers Danlos Syndrome (EDS) is a syndrome in which the connective tissue in the body is not formed properly. The consequences of this are especially noticeable in the skin (excessive stretch, very fragile, poorly healing wounds, easy bruising) and joints (hypermobility, luxations), but internal problems also occur. Very annoying to downright disabling, but “you can live to be a hundred with it.” However, the latter does not apply to one type of EDS: the vascular type.

The phenomena

The vascular type of EDS is also the rarest: approximately 7.5% of all people with EDS suffer from it. The main symptoms are:

  • Thin, translucent skin
  • Brittle vessels; rupture of vessels, intestines and uterus
  • Fast and lots of bruising
  • Certain facial features: a pointed nose, large eyes, thin lips, flat cheeks, lack of earlobes

In addition, the following side effects may occur:

  • Hypermobility, especially of the small joints
  • Flat feet
  • Congenital club feet
  • Tearing of tendons and muscles
  • Old-looking hands and feet for the age
  • Varicose veins at a relatively young age
  • Collapsed lung
  • Receding gums

In particular, the fragility of the vessels and hollow organs can be life-threatening: if they rupture, this leads to bleeding that can lead to death. The average life expectancy of people with vascular EDS is between 40 and 50 years.

Cause

The vascular type of EDS is caused by a defect in the COL3A1 gene, causing a deficiency of collagen III. This type of connective tissue provides strength and elasticity to skin, blood vessels and internal organs; This is precisely where problems occur with vascular EDS.

The diagnose

The appropriate person to diagnose EDS is the clinical geneticist. If he has indications that the vascular type may be involved, he will initiate DNA testing. For this purpose, a skin biopsy is taken under local anesthesia, which is then examined at gene level. DNA from blood can also be used for this test, although this gives a slightly less reliable result.

Heredity

The vascular type of EDS, like most other EDS types, is inherited in an autosomal dominant manner. This means that a child of someone with vascular EDS has a 50% chance of having the condition themselves.

Pregnancy and vascular Ehlers Danlos

Pregnancy in a woman with vascular Ehlers Danlos is not without risks. An estimated 12-25% even die from complications during or shortly after pregnancy or childbirth. These complications include:

  • Rupture of the aorta
  • Rupture of uterus or intestines
  • Venous bleeding

Specialists can point out the risks to a woman with vascular EDS and estimate how great they are in her case. Not every patient has the same severe form, so whether a pregnancy is justified must be assessed on a case-by-case basis.

Apart from the risks that the woman herself runs, there is of course also a 50% chance that the child will have the condition. For women who wish to do so, there is the option to examine during pregnancy whether the fetus is affected.

Precautionary measures

Ehlers Danlos cannot be cured or treated. To prevent complications with the vascular type as much as possible, certain precautions can be taken. Examples include:

  • Do not practice sports that increase pressure on the vessels (diving, weight lifting, intensive endurance sports); no contact sports;
  • Avoid invasive examinations, such as scopies, as much as possible and instead opt for non-invasive examinations, such as ultrasound and MRI.