EDS/HSD Awareness Month

May is Ehler-Danlos Syndrome/Hypermobility Spectrum Disorder Awareness Month, begun by the Ehlers-Danlos Society to bring attention to this family of connective tissue disorders which affect millions of people around the world, many of whom will take decades to be diagnosed while others will never know for sure what causes their bodies to exhibit an unusual constellation of symptoms. I apologize for being late to the effort, although I did do one awareness post here for One-Liner Wednesday and shared some informative posts via Facebook. It’s been a bit of a rough month for me.

I am one of those people who is yet to be officially diagnosed, despite decades of symptoms, though I will spare you the details of my specific case.

The Ehlers-Danlos Society is a great resource for information about both Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD), both for individuals and for clinicians and researchers. It also plays a role in funding research around the world for these connective tissue disorders. There is a lot to know but I will just give a broad outline here.

EDS is a group of inherited connective tissue disorders, currently classified into 13 types. Twelve of the types have a known genetic cause, where a chromosome affects a particular protein, and can be identified with testing. Some of these affect less than one in a million people.

The largest group of people with EDS, though, have hypermobile EDS (hEDS), estimated to affect 3,100-5,000 people per million. While it is known to have a dominant genetic inheritance pattern, the genes or groups of genes responsible have not yet been identified. There is some question among researchers and clinicians if hEDS should remain classified as a form of EDS or if it should be considered as part of Hypermobility Spectrum Disorder in which the hypermobility is more widespread and severe than in most people with HSD.

In HSD, people exhibit joint hypermobility/instability in at least one joint, which may suffer frequent sprains, pain, subluxation/dislocation, joint or soft tissue damage, and/or early arthritis. They may also have poor proprioception, which means they can have difficulty with awareness of their bodies’ position or movement, for example, being clumsy.

They may also have symptoms over many parts/systems of their body. Fatigue, headaches, gastrointestinal problems, autonomic dysfunction, and anxiety are some of the kinds of symptoms that can be part of HSD, with each person exhibiting a different constellation of symptoms which may shift over time. This makes sense in that we have connective tissue throughout our bodies, so symptoms as diverse as unusually stretchy or delicate skin, a frequently sprained ankle, irritable bowel syndrome, and blood vessel problems can all be related through differences in the way connective tissues behave in the body. We don’t know how prevalent HSD is, because the current classification system dates from only 2017, our current medical system tends to silo various body systems into separate specialties – without there being any specialists in connective tissues – and most primary care providers haven’t been taught to recognize it. This often leaves patients in the uncomfortable position of having pieced together their own diagnosis but not being able to find a doctor willing to consider it.

I feel that it is important to be properly diagnosed, even though, as inherited conditions, EDS/HSD cannot be “cured.” It helps to know about the underlying cause in order to treat symptoms more effectively. For example, physical therapy may need to be prescribed for a longer period of time with more gentle techniques to avoid further tissue damage. Surgeries may need to be modified to better support lax connective tissue. Knowing what other symptoms may arise that are connected to EDS/HSD is also helpful, along with awareness that connective tissue disorders can help explain some disorders, such as irritable bowel syndrome, that have often been written off as idiopathic.

As EDS/HSD Awareness Month draws to a close, I’d like to thank the Ehlers-Danlos Society for their valuable work in raising awareness of these conditions, advocating for patients, disseminating information, and spearheading research into these connective tissue disorders. Maybe, as more people and, critically, more health care providers learn more about these disorders, patients will be diagnosed and treated more quickly and effectively.

I hope.

(About the photo: Doctors are taught in med school that “when you hear hoofbeats, think horses, not zebras.” However, sometimes, it is actually zebras! Zebras have come to signify EDS/HSD. My daughter T gave me this zebra unicorn pin in that spirit.)