- This type affects approximately 1 in 250,000 people. Signs and symptoms include:
- Loose, unstable joints small joints with dislocations and subluxations (partial dislocations)
- Some people with the Vascular type also are hypermobile in large joints and dislocate in large joints as well
- Easy bruising
- Translucent skin
- Vascular rupture dissection, gastrointestinal perforation, or organ rupture in 70% of adults
- Clubfoot
- Congenital dislocation of the hips
- Inguinal hernia
- Arterial rupture preceded by an aneurysm, arteriovenous fistulae, or dissection, but also may occur spontaneously
- pneumothorax (collapsed lung)
- Treatments include surgery for bowel or uterine complications/rupture
- Any pregnancies that a woman with the Vascular type of EDS has will be very high-risk
- A medic alert bracelet should be worn at all times
- There is a genetic test for V-EDS
- Pregnancy carries a 12% risk of death from peripartum arterial rupture or uterine rupture
- Arterial rupture
- Intestinal rupture
- Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
- Acrogeria (an aged appearance to the extremities, particularly the hands)
- Tendon/Muscle rupture
- Arteriovenous carotid-cavernous sinus fistula
- Early onset varicose veins
- Pneumothorax/pneumohemothorax
- Gingival recession
- The average age for the first major arterial or gastrointestinal complication is 23 years
- Sudden death
- Stroke even in young adults
- Neurological sequelae
- Acute abdomen pain, bleeding, and rupture of organs
- Retroperitoneal bleeding
- Uterine rupture at delivery and/or shock
- Arterial rupture of the thorax and abdomen (50%)
- Arterial rupture of the head and neck (25%)
- Arterial rupture of the extremities (25%)
- Rupture of gastrointestinal tract happens in 25% of people with V-EDS
- Perferoations on the GI tract often appear in the sigmoid colon
- Bowel rupture is only fatal 3% of the time
- Extreme chronic fatigue and pain
- Surgical complications
- Slow wound healing
- Anxiety and depression caused by EDS
- One fourth of individuals experience a serious medical problem by age 20
- 80% of individuals experience a serious medical problem by age 40
- The median age of death is 48 years
- Passed down as an autosomal dominant gene
- 50% of passing down C-EDS to children
- Estimated prevalence is guessed at 1 in 250,000
- There is no way of knowing how many people are undiagnosed with EDS
- V-EDS is most often diagnosed on autopsy
