Vascular Ehlers-Danlos Syndrome (vEDS)
A German physician named Georg Sack first recognized it in 1936 and named it Status Dysvascularis. Since then, other names have been used to describe it: Familial Acrogeria, Sack-Barabas Syndrome, Ehlers-Danlos Syndrome, type IV and/or vascular type. More recently it has come to be known as: Vascular Ehlers-Danlos Syndrome (vEDS).
Vascular Ehlers-Danlos Syndrome (vEDS) is a dominantly inherited, life-threatening connective tissue disorder which results from mutations in the COL3A1 gene. This gene controls the production and assembly of type III collagen. Collagen is the most abundant protein found throughout the entire body. This is what gives connective tissues its strong structural support that acts like cellular “glue” that strengthens and holds your entire body together. Mutations on this gene results in structural dysfunction of the collagen bundles within the connective tissues at the molecular level. These types of mutations cause weakness and fragility to internal organs (GI tract, lungs, liver, spleen, kidneys, bowel/colon, bladder and uterus), arteries and veins that are rich in type III collagen.
Thin translucent skin reveals the subcutaneous venous pattern, and is particularly apparent over the chest and abdomen. Facial appearance is characteristic in some affected individuals, but not in all. A decrease in subcutaneous “fat” tissue, particularly in the face and extremities is evident. Minor trauma can lead to extensive bruising and hematomas. Arterial/intestinal/uterine fragility or ruptures commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Life expectancy may be shortened.
Joint hypermobility is usually limited to the digits , but can be more extensive throughout then body. Tendon, ligament and muscle rupture can occur. Talipes equinovarus is frequently seen at birth. Other manifestations that may be found include: acrogeria; early onset varicose veins; arteriovenous, carotid-cavernous fistula; pneumothorax/pneumohemothorax; gingival recession; complications during and after surgery.
Vascular Type EDS is caused by structural defects in the proa` 1 (III) chain of collagen type III encodes by COL3A1. Inheritance: Autosomal dominant.
Diagnostic Criteria for Vascular EDS (vEDS – old type IV) include:
It is not so rare as usually considered, and is characterized as follows:
Major diagnostic criteria:
- Thin, translucent skin (especially noticeable on the chest/abdomen)
- Easy bruising (spontaneous or with minimal trauma)
- Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
- Arterial rupture
- Intestinal rupture
- Uterine rupture during pregnancy
- Family history, sudden death in (a) close relative(s)
Minor diagnostic criteria:
- Acrogeria (an aged appearance to the extremities, particularly the hands)
- Arteriovenous carotid-cavernous sinus fistula
- Hypermobility of small joints
- Tendon/muscle rupture
- Early-onset varicose veins
- Arteriovenous, carotid-cavernous sinus fistula
- Chronic joint subluxations/dislocations
- Congenital dislocation of the hips
- Talipes equinovarus (clubfoot)
- Gingival recession
Note: The presence of any two or more of the major criteria is highly indicative of the diagnosis, and laboratory testing is strongly recommended. http://www.genetikzentrum.ch/view/userfiles/files/Diagnostic_Criteria_EDS_IV(1).pdf
Another “unofficial” minor criteria: that is a common finding in those with Vascular EDS –
They often sleep with their eyelids partially open.
(This may also occur in other types of EDS)
“Microangiopathy of the skin capillaries with microbleedings, presence of microaneurysms and increased transcapillary diffusion. Microvascular involvement appears to be an additional manifestation of the syndrome.” (Superti-Furga et al. 1992)
Reference:COL3A1 collagen, type III, alpha 1 www.ncbi.nlm.nih.gov/gene/1281 (Superti-Furga et al. 1992) www.ncbi.nlm.nih.gov/pubmed/1506129 http://en.wikipedia.org/wiki/Sack-Barabas_syndrome