Ehlers-Danlos Syndrome (EDS) is not usually terminal, but for some EDS patients, it can cause limitations. The prognosis depends on the type of EDS the patient has and how it affects that patient.
Vascular EDS (vEDS) is considered the most serious form of Ehlers-Danlos Syndrome due to the possibility of vascular (blood vessels), arterial, or organ rupture, which can be life-threatening in some cases.
Patients with less severe types of EDS, such as Classical EDS and Hypermobile EDS, will have a longer lifespan, on average, as these types do not share the same life-threatening vascular complications as vascular EDS.
EDS will present differently for each patient. EDS is known to cause hyperextensibility (stretchiness) of the skin, hypermobility of joints, tissue fragility demonstrated by easy bruising, and delayed wound healing with atrophic scarring. However, one of the most debilitating and misunderstood symptoms of EDS and POTS is chronic pain. One large cohort study of EDS patients found that pain is common and severe in EDS. This study also found that pain in EDS is related to hypermobility, dislocations, and previous surgery and is associated with moderate-to-severe impairment in daily functioning.
While distinct, all forms of EDS can share some symptoms like easy bruising and joint hypermobility, but the severity and specific presentation can vary greatly, with vascular EDS as the distinct outlier in terms of potential life-threatening complications.
Vascular Ehlers-Danlos Syndrome (vEDS) is a more severe form of EDS. It may cause the walls of your blood vessels, intestines, or uterus to rupture. A ruptured organ can cause severe internal bleeding, organ failure, or even death. The outcome depends on the severity of the injury and how quickly it’s treated.
Complications –
vEDS is characterized by thin, translucent skin, frequent bruising, and a characteristic facial appearance. This may include thin vermilion of the lips, micrognathia (a term for a lower jaw that is smaller than normal), a narrow nose, prominent eyes, and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, GI perforation, or organ rupture are the presenting signs in most adults with vEDS.
Because vEDS can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family. Please know that having vEDS does not necessarily rule out becoming pregnant and delivering a healthy baby.
One 2014 study found the following:
“Pregnancy-related deaths occurred in 30 of 565 deliveries (5.3%). There was no difference in Kaplan-Meier survival curves between parous versus nulliparous women with vascular Ehlers-Danlos syndrome. Interviews with 39 women indicated that 46 percent of deliveries were uncomplicated. The most common pregnancy-related complications were third-/fourth-degree lacerations (20%) and preterm delivery (19%). Life-threatening complications occurred in 14.5 percent of deliveries and included arterial dissection/rupture (9.2%), uterine rupture (2.6%), and surgical complications (2.6%). There were five maternal deaths in 76 deliveries (6.5%).”
It concluded that “the risk of pregnancy-related complications is increased in women with vascular Ehlers-Danlos syndrome compared with the general population; however, survival data indicate that pregnancy does not appear to affect overall mortality compared with nulliparous women with vascular Ehlers-Danlos syndrome. The data was insufficient to determine whether the mode or timing of delivery influenced the risk of complications. syndrome should be engaged in a shared decision-making process when contemplating pregnancy and pregnancy management.”
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