Since my diagnosis with Hypermobile Ehlers Danlos Syndrome (hEDS) in August of 2018, numerous friends have reached out for information about the condition. This is because it is not, in fact rare, just rarely diagnosed as we like to say in the EDS community.
I have created this resource page to send to friends and family looking for more information. There are many great websites and books with information about hEDS, a closely related condition–Hypermobility Spectrum Disorder–and the other Ehlers Danlos Syndromes. Though I will summarize some information, I will do my best not to replicate information as there is already a lot of great stuff out there. I have no financial relationship to vendors listed here. Also, nothing here should be construed as medical advice as I am not an MD.
What is it?!
hEDS is one of 14 forms of Ehlers-Danlos Syndrome. ED Syndromes affect the way the body produces collagen. Collagen is the most common protein in our bodies and makes up your cartilage, tendons, and all the tissue that connects you together. For that reason, EDS affects the joints and skin, but also just about every other system in the body. hEDS is a variant of EDS that is generally less severe than the other 13 forms, though some people are very severely disabled by it. Hypermobility Spectrum Disorder (HSD) is a separate diagnosis created recently to aid genetics research, but it is treated the same way as hEDS and can be just as disabling.
People with hEDS/HSD can have problems with joint instability, gastrointestinal problems, easy bruising, poor wound healing, chronic pain, and fatigue (if your collagen isn’t doing its job, your muscles pick up the slack leading to fatigue and muscle pain/tightness).
For reasons that researchers still don’t understand, it is really common for people with EDS to also have an immune system problem called Mast Cell Activation Syndrome (MCAS) which causes allergy-like symptoms, asthma, migraine, gastrointestinal problems, hives, and even anaphylaxis. It is also common for people with EDS to have problems with their autonomic nervous system. This is the part of our nervous system that keeps us breathing, keeps our heart beating, and keeps our temperature regulated without us having to think about it. The condition most common for EDSers to have is called Postural Orthostatic Tachycardia Syndrome or POTS. POTS, can cause a racing heart beat, dizziness, and fainting when moving from lying down to standing. It can be very debilitating for people who experience it, but there are also some treatments for POTS that can make a big difference in quality of life. When all three conditions are present (EDS, MCAS, and POTS) they are called “The Trifecta” among patients.
What is MCAS?
MCAS has only been recognized by doctors for about 10 years and testing for it is really difficult. But there is treatment for it and I can attest that it works! I am feeling so much better!
Let me start by telling you about about your mast cells. MCs play an important role in your very complex immune system. They are a white blood cell made in your bone marrow (this may be the connection to EDS). Their job is to react to toxins, poisons, bacteria, viruses, etc in your body by releasing chemicals that signal to other immune cells to come to that area and fight off the attacker.
When a mast cell “degranulates” (the little granules explode!) one of the chemicals released is histamine. Histamine causes local inflammation by signaling to other white cells to come to the area to fight the invader.
Think of a bee sting. Mast Cells basically send out an APB to other parts of your immune system the result is a red, hot, swollen, bump where the bee stung you. That reaction is actually caused by the chemicals in your body, not the bee venom. The bee venom itself is destroyed by these chemical mediators so it can’t damage your cells. Mast cells produce 200+ chemical mediators (not just histamine) that play an important role in defending your body.
But in MCAS, the mast cells get triggered to degranulate when they shouldn’t. They are hyper-reactive. So any little thing can set them off, not just typical allergens. With MCAS foods, medicines, chemicals, stress, heat, cold, hormones all kinds of things cause your mast cells to explode those 200+ mediators all over your body.
MCAS causes you to feel bad just like you do when you are exposed to a real toxin, poison, allergen, or virus, except you may be mystified as to why you feel sick. For example, I had fevers and flu-like malaise without any cold symptoms. Or hives without exposure to my known allergens. I also had chronic migraines and developed food sensitivities. MCAS can produce a variety of symptoms, many of which mimic allergies, but some of which are really strange.
Here is some more detailed info about MCAS:
What is Dysautonomia?
People with EDS often have difficulty with their autonomic nervous system. Most who have this problem are diagnosed with POTS, but there are a few other disorders that sometimes appear, such as Hyper POTS, and Orthostatic Hypotension (I’ll let you google).
I have a little bit of subclinical dysautonomia (I have temperature regulation issues) but this is one that doesn’t affect me as much as hEDS and MCAS. So, I understand it a little less less well.
POTS happens in EDSers likely due to venous laxity, though researchers aren’t completely sure. Because the veins are stretchy it can be difficult to regulate heart rate and blood pressure. This can cause a host of problems like dizziness, fainting, heart palpitations, exercise intolerance, low blood pressure, high blood pressure, blood pooling in the feet and hands, and fatigue. The vast majority of sufferers are female (perhaps due to the fact that progesterone increases stretchiness of the veins).
POTS is diagnosed with a tilt table test. After ten minutes resting flat, the table is tilted up to standing position and the heart rate is monitored for another 10 minutes. POTS will produce a jump in resting heart rate of more than thirty beats a minute sustained. Orthostatic Hypotension (OH), another type of dysautonomia, results in a potentially dangerous blood pressure drop during this test. Anyone who sustains a heart rate of 120 bpm while simply standing also qualifies for a POTS diagnosis. My test was negative. I just have Orthostatic Intolerance … which means I don’t like roller coasters … or bending over to pick up socks.
There are some treatments for these conditions. Drinking lots of water, increasing salt intake, vasoconstrictors, and for OH, some blood pressure medications can help.
Unfortunately most doctors have never heard of POTS. And, they are likely to dismiss many of the symptoms as anxiety, hysteria, or hormones. About 25% of POTS patients are profoundly disabled by their condition. It is shameful that medical schools aren’t teaching about it as the lack of medical awareness means many people can’t access disability benefits they desperately need.
Information about hEDS/HSD Diagnosis:
Diagnosis for hEDS is clinical (based on symptoms and family history) because the gene mutations that cause it haven’t been identified yet. Any doctor should be able to diagnose it, but most people wind up needing to see a geneticist because general practitioners and even rheumatologists aren’t well educated about the condition.
hEDS is inherited in an autosomal dominant fashion. What that means is that it takes just one parent to have the defective genes to pass it on to the next generation. Each child has a 50:50 chance of inheriting the condition. Unfortunately, if both parents are carriers, the risk goes up to 75%. According to my geneticist 95% of people with hEDS express the genes (meaning they have symptoms). But for some lucky people, the gene expression may be mild, which can make it appear to “skip a generation.” But that’s really not what’s happening.
Compiling a detailed family history is important. Keep in mind symptoms manifest differently in everyone, so family members may have different problems from one another. A big clue is simply lots of problems in lots of family members. On the other hand spontaneous mutations happen. Some people have no family history and still have the condition.
Information about Treatment:
Unfortunately, for EDS the main treatment is managing pain and physical therapy. There is no cure. But that doesn’t mean that there is no hope.
A physical therapy program called the Muldowney Protocol specific to EDS has helped me A LOT! I’m still in some pain but I feel stronger and more confident in my joints.
I use metal ring splints when I am working on tasks that cause my fingers to hyper extend (cooking!). I should probably wear them full time, but I’m not there yet.
I am having good results with the Cusack Supplement Protocol, as well. My fatigue has improved considerably. I have more exercise stamina. And my joints aren’t popping and cracking as much. You can find out more on facebook. Let me offer a caveat here. Please take the protocol to your doctor as not all supplements are suitable for all people. Many have blood sugar lowering properties that can cause problems for people on diabetes medications. My own naturopath discouraged me from taking diatomaceous earth, a source of silicon. Supplements are not benign and can both help and harm.
For me, the biggest gains have come from managing MCAS. Antihistamines (especially H2 blockers), quercetin, and a supplement called Neuroprotek (no financial relationship) have helped most with my pain and function. I recently learned that Neuroprotek is intended to be the children’s supplement. It is more cost effective and just as effective at managing my MCAS to take a combo of FibroProtek and BrainGain also sold by Algonot (According to Dr. Theoharides, the target is 500 mg of leuteolin daily).
To deal with my autonomic problems, I take electrolytes and wear compression socks to help with circulation. I am working on my cardiovascular fitness as well using a recumbent stationary bike (I can’t fall off it due to my vertigo and it is zero impact for my joints). I deconditioned a lot over the past year, but I’m pacing myself and going very slowly. That seems to be the key!
Guided meditation has also been very helpful for managing acute pain for me.
I’ve also made substantial dietary changes that have been beneficial to me. Though I have eliminated certain foods from my diet, I wouldn’t recommend eliminating anything without working with a holistic non-diet nutritionist or naturopath. That said, lots of folks in the EDS community find a gluten-free diet to be beneficial.
Part of the intellectual project of Fat Zebra is to think specifically about how the disordered nature of our culture’s relationship with food has a negative impact on fat people with EDS. So, I want to remind you that foods are not good or bad. Certainly some people find their particular bodies can’t tolerate certain kinds of food whether that’s due to allergies, MCAS, celiac, or some other problem. Regardless, let’s be careful about generalizing and moralizing about food, especially in relationship to health!