What is the inheritance, prevalence and prognosis of EDS?

 

The most frequently seen EDS subtypes, Hypermobile EDS (hEDS) and Classical EDS (cEDS), are autosomal dominant (passed from one generation to another with only one copy of an affected gene needed for disease expression).  In this case, an affected parent has a 50% chance of passing their condition on to each child.  Most of the rarer EDS subtypes are autosomal recessive (two copies of an affected gene, one from each parent, is needed for a disease expression).   However, some rarer types are autosomal dominant including Vascular EDS (vEDS).

 

Current research shows EDS prevalence to be 1 in 2,500 to 1 in 5,000 people.  However, some EDS experts suspect it could be more common, maybe as high as 1 to 3%.  Future identification of the hEDS genetic markers may help to better determine prevalence.

 

Life expectancy is usually normal for all types of EDS with the exception of vEDS, which can have a shorter expectancy due to possible organ or vessel rupture. 

 

It is interesting to note that more women than men seek care for hEDS.

In general women have more flexible joints than men and report more pain and joint complications.  Joint stability may be influenced by the effects of sex hormones.  Also, there may be differences in the perception or biases associated with pain. 

 

Although EDS can result in reduced quality of life and increased impairments, many people with EDS have successful careers and/or functional, fulfilling lives.  Proactive patient self-advocacy, positive relationships with clinicians, appropriate medical care and support from one's family or friends can improve patient outcomes.