July 25, 2016

Vascular

http://www.dreamstime.com/royalty-free-stock-photos-blood-vessels-image901388

Vascular Ehlers-Danlos Syndrome (vEDS)

This is not a brand new disorder. 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
  • Pneumothorax/pneumohemothorax
  • 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

 

Vascular EDS…The early signs.

Click on picture:

Annebella bruises

To Learn more visit this website:

Annabelle’s Challenge

 

TO READ THIS ER BOOKLET CLICK THIS LINK.

 

 

NEW BOOK: RARITY 

D.A. Roach (Author), M. Galles (Editor), LJ Portrait (Photographer)

Sometimes the most vulnerable, courageous warriors teach us the most priceless life-lessens

This would be a great read for those teenagers who are struggling with a diagnosis and for their family members. Those who have been personally touched in one way or another by Vascular Ehlers-Danlos Syndrome (vEDS) or any rare disorder. It’s a raw look at the true ups and downs of life and what you have to do to overcome and continue on to live life to the fullest…no matter what circumstances are put in your path. I believe whoever reads it will be able to gain strength and learn one of the most important lessons in life…love, live and laugh.

 

Click Picture Below

NEW BOOK: Rarity


 

Vascular Ehlers-Danlos – Dr. Diana Driscoll

 

 

Hal Dietz on the future of Ehlers-Danlos Syndrome

 

 

 

 Thank you to ALL the families that gave us permission to use their loved ones picture.

 

Manifestation of Vascular EDS

 

Click link below to read article:

Vascular Ehlers Danlos Syndrome – When Do Cardiologists need to think about? Emmanuel Messas M.D.

VASCULAR EDS (TYPE IV)PATIENT RESOURCE

An “EDS type IV Passport” is available for recently diagnosed individuals and families hoping to learn more about EDS type IV (vascular Ehlers-Danlos syndrome) or to anyone needing help distributing information about this very rare disease.  The Passport contains information about EDS type IV, its complications, their treatment, and their prevention.  To obtain a Passport please contact Dru Leistritz at dru2@uw.edu.

EDS Type IV Patient Resource

 

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