EDS Awarness Month: Ehlers-Danlos Syndrome Vascular Type

Ehlers-Danlos Syndrome, Vascular Type (formerly type IV)

• 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

Sources: 

Mayo Clinic's article on EDS

Ehlers-Danlos Syndrome, Vascular Type

Ehlers-Danlos National Foundation