Vascular Ehlers-Danlos

Vascular Ehlers-Danlos (vEDS) is inherited by autosomal dominant heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception fo specific heterozygous arginine-to-cystetine substitution mutations in COL1A1. In very rare instances, biallelic pathogenic variations in COL3A1 may be identified.  

 

Minimal criteria to suggest a vEDS diagnoses are family history or the disorder, arterial rupture or dissection in individuals <40yrs of age, unexplained sigmoid colon rupture, or spontaneous pneumothorax in the presence of other features suggestive of vEDS. 

Molecular testing is required to confirm a diagnosis. Absence of confirmatory findings does not exclude the diagnosis, specific types of mutations may go undetected by standard diagnostic molecular techniques. 

Major Criteria:

1. Family history of vEDS with a documented causative variant in COL3A1: 

2. Arterial rupture at a young age;

3. Spontaneous sigmoid colon perforations 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: and

5. Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma.

Minor 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 (<30yrs and nulliparous if female)

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes