Vascular EDS (vEDS)

PREVALENCE: 1 in 50,000 to 200,000 [22]

INHERITANCE PATTERN: Autosomal Dominant (for this reason, genetic counseling is available, and often recommended, for couples who possess at least 1 copy of the mutated gene)

SYMPTOMS [23]:

Vascular EDS (vEDS) is mainly characterized by having fragile arteries, intestinal walls, and/or uterine walls. With vEDS, the arteries, organs, or intestines may perforate or rupture, due to the weakness of these structures. Other defining characteristics include thin, translucent (see-through) skin, prominent or unexplained bruising, protrusion of veins in the chest area, large eyes, a pinched or narrow nose, and thin lips (often the upper lip). Hypermobility of the joints is usually limited to the smaller joints of fingers and toes.

DIAGNOSTIC CRITERIA [24]:

To diagnose vEDS, the following formula must be satisfied:

Major Criterion #1, #2, #3 OR Minor Criterion #4 IF other Minor Criteria present

A patient must have Major Criterion #1 (family history of vEDS with a documented causative variant in COL3A1), Major Criterion #2 (Arterial rupture at a young age (under 40)), Major Criterion #3 (spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology), or Minor Criterion #4 (spontaneous pneumothorax) if other vEDS-consistent minor criteria are present. To confirm a suspected diagnosis, molecular genetic testing must be performed.

Most children with vEDS (about 60%) are diagnosed before they reach the age of 18 years, due to a positive family history. Half of the children tested for vEDS will experience a severe event, such as an arterial rupture, by the time they reach age 11 [25]. VEDS is considered one of the most severe forms of EDS because the life expectancy for those with vEDS is lower than average.

The major and minor criteria and genetic markers responsible for vEDS can be found in the chart below.

Major Diagnostic Criteria

  1. Family history of vEDS with a documented causative variant in COL3A1
  2. Arterial rupture at a young age (under 40)
  3. Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology
  4. Uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears
  5. Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma

Minor Diagnostic Criteria

  1. Bruising unrelated to identified trauma and/or in unusual sites such as cheeks and back
  2. Thin, translucent skin with increased venous visibility
  3. Characteristic facial appearance
  4. Spontaneous pneumothorax
  5. Acrogeria
  6. Talipes equinovarus
  7. Congenital hip dislocation
  8. Hypermobility of small joints
  9. Tendon and muscle rupture
  10. Keratoconus
  11. Gingival recession and gingival fragility
  12. Early onset varicose veins (under age 30 and nulliparous if female)

Genetic Markers:

Major: COL3A1

Rare: COL1A1