Rarity (15 page)

Addendum

Vascular Ehlers-Danlos Syndrome (vEDS)

The estimated prevalence of vEDS is 1 in 50,000 to 1 in 100,000.

This is not a brand new disorder. A German physician named Georg Sack first recognized it in 1936 and he 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.

Diagnostic Criteria for Vascular EDS (vEDS – old type IV) include:

Major diagnostic criteria
:

-Thin, translucent sk
in (especially noticeable on the chest/abdomen)

-Easy bruising (spontaneous or with minimal trauma)

-Characteristic facial appearance (thin lips, philtrum, small chin, thin nose, large eyes)

-Arterial rupture

-Intestinal rupture

-Uterine rupture during pre
gnancy

-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

-Pneumothorax/pneumohemothorax

-Chronic joint subluxations/dislocations

-Congenital dislocation of the hips

-
Talipes equinovarus (clubfoot)

-Gingival recessi
on

Another unofficial minor criteria: which 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 as well)

Note:
The presence of any two or more of the major criteria is highly indicative of the diagnosis,

           
and laboratory testing is strongly recommended. 

                                   Learn more: edstoday.org 

                               www.annab
elleschallenge.org/vascular-eds/

***************

vEDS can be diagnosed via blood test or skin biopsy. 

Advice I have for those just being diagnosed with vEDS:

-Get and wear a medic alert bracelet stating Vascular Ehlers Danlos

-Know the best hospital to get care from in an emergency (it’s often a teaching hospital, or one that can handle rare disorders)

-Educate family, school staff, and your local doctors about vEDS.  Because it is rare, you will need to learn about it and advocate for yourself

-Get regular echos, CT scans or MRIs, as well as see your general practitioner regularly

-Inquire about starting one of the medications that have been useful in preventing aneurysms in other connective tissue disorders

-Avoid activities and things that can cause hollow organ rupture or aneurysms

-Avoid elective surgery

-See the top doctors in this field and develop a relationship with them (in the U.S., I recommend Dr. Hal Dietz and Dr. James Black at Johns Hopkins)  These docs can advise your local physicians on how to care for you

-Make a lot of memories

-Raise money for research

There is hope!

Researchers have found that several medicines have helped prevent aneurysms in closely related connective tissue disorde
rs such as Marfan’s Syndrome and Loeys-Dietz Syndrome.  The medicines do this by keeping the blood pressure low (less strain on the arteries) and also by acting on a protein matrix that affects the collagen.  This is not a cure, but it is a positive step forward. 

1/3 of the profits from this book’s sales will be donated toward vEDS research (http://www.ehlersdanlosnetwork.org/donations.html)