Hypermobile Ehlers Danlos Syndrome
While it is not fully understood, there is a clear connection between the chronic pain syndrome and joint hypermobility. Unfortunately, the medical training industry has done a very poor job of studying and teaching this phenomenon to physicians. There are many reasons for this, but the main one is likely the name of the diagnosis: Hypermobile Ehlers Danlos Syndrome (hEDS).
Can you easily touch your toes or do the splits? Do your joints bend more than your friends? Do you even show off how oddly flexible you are and ask “what do you mean, you can’t do this?” before flipping your arms in some odd position?
I bet you’re also in a lot of pain all the time because you have hypermobile EDS.
Why is the name a problem? Simply because there are other forms of Ehlers Danlos that are fundamentally different. Those other forms are quite rare. The vascular form (and other primary genetic forms) are present in 1 out of every 250,000 people, which some consider an over estimate since some patients were not genetically tested. The hypermobile Ehlers Danlos is present in 1 out of every 5,000 people, which many consider an underestimate since the data was obtained before more recent guidelines for diagnosis were accepted. That’s right math guys, out of all of the Ehlers Danlos patients, the vast majority have no gene to test for and no obvious lab test to prove or disprove it. The reality is that they probably have little to do with each other.
As a Neuropsychiatrist focused on complex and atypical pain syndromes, the hEDS patients are everywhere. They’ll have had multiple surgeries and many musculoskeletal and neuropathic pain complaints. They will have seen a dozen different specialists, often without being diagnosed. Those who have been diagnosed will have had a ton of genetic testing that mostly comes back normal. They’ll have seen cardiologists just to “make sure” they don’t have blood vessel abnormalities. They’re tested for many rheumatologic disorders. Then they’re told the tests came back ok and left to fend for themselves at urgent care clinics and emergency departments whenever they have a “flare up”.
These patients are extraordinarily frustrated and begin to think that their doctors think it is “all in their head”. They struggle to find the balance between self advocacy and avoiding labels like borderline, neurotic, or “drug seeking”. In reality, I find most of them are traumatized and “help seeking”. But most feel abandoned and without guidance on how to stay functional and reduce their pain.
There are some ways that hEDS patients are just like my other chronic pain syndrome patients. They respond very well to medications that treat the chronic brain and nerve changes called central sensitization and peripheral sensitization. Since most of them have a migraine history, they respond very well to migraine medications. They also do very well with chronic pain habit changes like working on sleep quality, diet, exercise, and stress reduction. However, they are different in a few key ways.
Since their injuries come from hypermobile joints, they often have terrible experiences in physical therapy and with surgical treatments. Don’t get me wrong, they still need a lot of physical therapy and at times need surgeries, but if their therapist or surgeon is unfamiliar with hEDS the results can be disastrous. For most chronic pain patients, stretching is the most important part of treatment with strengthening mostly secondary. For hEDS patients, stretching may worsen their joint instability and make them more likely to have joint subluxation, strains, and sprains. Strengthening and joint stabilization is the main focus of physical therapies.
Surgically, there is not a lot of good data to guide modifications of treatment specifically with hEDS patients, but there are many procedure modifications that can help. One example for knee injuries like ACL surgery, procedures that also stabilize the joint like a lateral extra-articular tenodesis can be added to improve outcomes. It is important not to insist that your surgeon consider a procedure they are unfamiliar with, but discussing joint hypermobility openly and understanding the available options with the surgeon is very reasonable. They should also discuss any previous surgical and post surgical problems like the common atrophic scarring and post-surgical neuropathic pain.
My patients are also usually frustrated by their encounters with Rheumatologists. One Rheumatologist may run a thousand tests and dismiss any positive results as a false positive, sending the patient to a pain clinic and indicating that nothing is wrong with them. Other Rheumatologists may diagnose them, but say there is no need for further follow up. The reality is that most of my hEDS patients clearly have an immune mediated component to their disorder, but most don’t meet criteria for a standard rheumatologic disorder.
This may sound counterintuitive until you realize that standard rheumatologic disorders are a very narrow subset of patients with diagnoses like Lupus, Sjogrens, Rheumatoid Arthritis, and others. These disorders are designated by committees to determine which patients are easy to diagnose with a few lab tests and to study with certain immunotherapies. They notice a pattern, group the patients and study the effects of various treatments, and then recommend those treatments for those disorders. There are a lot of patients who meet some but not enough of the clinical or laboratory criteria, but they haven’t historically been included in the studies. The vast majority of patients with standard rheumatologic disorders have a decade or more of symptoms before they “fill criteria” for the specific diagnosis, or meet some criteria for a few different disorders. Depending on the Rheumatologist they meet, they may be diagnosed with some non-specific disorder without a particular treatment like “Mixed connective tissue disease” or be given no diagnosis at all. After seeing a few different rheumatologists, they are very confused by the conflicting information they are given.
These patients often have “soft rheumatologic signs” like reynaud’s phenomenon, night sweats, and/or migratory joint pain. They often have rashes that one person will call psoriatic, but another will say isn’t psoriatic. They will have one provider say a joint looks swollen or warm, but another will say it isn't really that swollen or warm. They will have a low level of a positive blood marker like the Anti-Nuclear Antibody, but it comes and goes and has a “non-specific pattern”. Then, having seen three or four doctors, they are just exhausted, confused, and depressed.
The reality is that the Rheumatologist needs to stay involved, but often only see the patient once per year or if a new symptom arises. The purpose of this is to keep checking to see if they fill criteria for a primary rheumatologic disorder which could help justify immunotherapy. Otherwise, the Rheumatologist may or may not give much symptomatic help depending on their familiarity with chronic pain management options.
These hEDS patients have a few other problems that involve other fields. They seem to be very sensitive to any steroid or hormone treatments. There is data to suggest that both pregnancy and many hormone contraceptive treatments can worsen their joint hypermobility. They also can be very sensitive to antidepressant treatments, even those that are very helpful with their chronic pain syndrome. They consequently require very low starting doses and very slow escalation to high doses to get benefits.
Finally, it is very difficult to determine cause and effect with the psychiatric conditions in hEDS. The brain networks for chronic pain and depression are so integrated that most people with long standing chronic pain syndrome inevitably develop depression, but mood instability in hEDS is even more pronounced. Is this because they share genetic and environmental risk factors? Is it because depression is simply another symptom of hEDS? Or is it the trauma of navigating our medical system to get care that causes their depression? Until we change our medical system to be more compassionate and supportive of them, we may never know.
If you or a loved one has hEDS, or thinks they might, request a consult to day to discuss the diagnosis and possibilities for treatment.
