Living with Hypermobile Ehlers-Danlos Syndrome

Information on different aspect of life when you have Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder, based on research, seminars, patient experience and feedback, years of caring for my favorite HEDS patients, and living with these conditions myself.

Interconnected Telehealth, Dr Sarah Bohrer Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder, based on research, seminars, patient experience and feedback, and years of caring for my favorite HEDS patients. 1)HEDS is a clinical diagnosis and using the 2017 criteria from the International Consortium on Ehlers-Danlos Syndromes and related disorders. Hypermobility Spectrum Disorder is diagnosed when the diagnostic criteria for HEDS are not met, but symptoms are still present. We treat both conditions the same, and symptoms can be just as severe if the full HEDS criteria are not met, as more recent understanding is that they are they are possibly the same disease, with a spectrum of varying degrees of severity. Symptom management is the important focus. The conditions are caused by genetic changes that affect connective tissue. Connective tissue is present in literally every part of the body. Faulty connective tissue is the basis that gives our bodies the architecture to develop the significant comorbidities and symptoms seen with hypermobility. HEDS and HSD are used interchangeably in this discussion. Symptoms vary tremendously from person to person, and also vary within a person from day to day, week to week and year to year. There is currently no single genetic marker readily available to diagnose HEDS. There is no known cure, so the focus is management of the symptoms, avoiding triggers or flares, and protecting the joints.

1) The most important treatment starts with physical therapy with a provider who is hypermobile aware. PT should not make you feel worse. If it does, that means that you are not being treated properly. Gentle, slow, and steady progress is key, you should not push through the pain, as that would cause a flare that can set back progress. PT should focus on core strength and joint stabilization. Manual PT is particularly important. You can work with a PT on a particular area of pain or instability, while continuing to work on stabilization. Pelvic floor PT can be helpful with hip and lower back pain, urinary symptoms and prolapse. Vestibular PT may help with vertigo/balance. Exercise also should not hurt. Avoid high impact sports or exercise, contact sports, and anything causing repetitive strain on a particular joint. Start slow and make steady progress. Some forms of exercise that may be successful with HEDS include gentle yoga, aqua walking or aqua aerobics, gentle Pilates, recumbent bike, and walking with good foot support. Every patient is different. Some people may not be able to exercise at all outside of PT, and that is ok. Some may be able to excel in sports. In general, try to avoid overdoing it, to avoid injury and flares.

2) Comorbidities of HEDS can include POTS (postural orthostatic tachycardia syndrome), MCAS (mast cell activation syndrome), irritable bowel syndrome, chronic headaches, chronic pain, chronic fatigue, small fiber neuropathy, overactive bladder, menstrual irregularities, anxiety, and neurodiversity (ADHD, Autism). Think of hypermobility as being a cog or a gear, connected to the cogs of the comorbidities. When hypermobility worsens, it sets the comorbidities spinning, turning more and more as flares are developing. When the comorbidities worsen, and the cogs spin more, they then also cause all the interconnected conditions to increase in severity. For example, if a shoulder joint becomes more unstable, it causes damage to the connective tissue locally. This can make the fibers and cells that live in the joints and skin become irritated and inflamed. Mast Cells are a type of immune cell that lives in the skin, and in our organs. Local damage causes more mast cells to “activate” and release hundreds of substances. One of these substances actually degrades connective tissue and makes joints looser. It is literally a self-feeding process, that causes a snowballing effect. Thinking of the interconnectedness of these disease processes may sound frustrating and make you think it is impossible to break the cycle and improve your health. But it can also help rationalize treatment plans, like physical therapy and mast cell stabilizers. Any improvement in the cycle can lead to improvement of the comorbidities and help get you out of flares, and into an improved baseline of your health. P

3) Pain makes an enormous impact on daily life with HEDS. There can be musculoskeletal pain, nerve pain, central sensitization, among others. Avoid overexertion, and it is never good to push through the pain when you have HEDS. There can be chronic pain and acute pain. In most cases, chronic pain is not optimally treated with opioids, as they can cause mast cells to flare, and cause severe constipation. Some patients indeed need daily opioids, and they should work with a pain management provider familiar with HEDS. Some non-medicinal treatments that can work for HEDS patients include TENS units, ice or heat, physical therapy, short term taping or bracing, Epsom salt baths, massage therapy with a knowledgeable therapist. Some medicinal therapies can include topical pain formulations such as lidocaine patches. In states where it is legal, cannabis, in a topical or edible form seems to benefit many people with HEDS. There was a recent study done out of Europe that showed cannabis to significantly improve lower back pain, sleep, and functionality in patients with chronic lower back pain. Low Dose Naltrexone (4.5 mg) blocks opioid receptors, and in low doses, can improve pain, inflammation, and fatigue. This is a compounded medication. Ageless RX is a reputable online company that can prescribe this for patients in any state, if you cannot find a local provider to prescribe compounded medications for you. It may take 3-4 months to notice full effects, but in general, it is worth trying. Gabapentin may aid with nerve pain. Podiatry can be helpful by fitting thin, comfortable orthotics that can reduce foot pain, and stabilizing the foot can in turn reduce ankle pain, knee pain, hip pain, etc.

4) Gastrointestinal issues can cause numerus problems. Irritable bowel syndrome, with alternating constipation and diarrhea, is a common comorbidity of HEDS and can be worsened with POTS and MCAS. Motility is affected by dysautonomia/POTS and can cause esophageal spasm/swallowing difficulties, delayed gastric emptying, and constipation. There can also be an acceleration of motility in some parts of the gut, with slowing of other parts. MCAS can cause bloating, gassiness, diarrhea, and food sensitivities/allergies. GE Reflux and nausea are common. Zofran can be helpful for nausea and was actually found to be the most helpful medication for improving quality of life for patients with POTS. It can worsen constipation, so use it with caution if you are prone to constipation. SIBO (small intestinal bacterial overgrowth) is a frequent complication of altered gut motility and can cause pain and diarrhea. Some HEDS patients benefit from gluten-free, dairy-free or low histamine diets. FODMAP diet has been shown to improve symptoms, but it can be difficult to follow. In general, avoiding highly processed foods with artificial ingredients like dyes is best. Patients with POTS or gastroparesis may benefit from low fiber foods, such as potatoes and white rice. Vegetables and fruits may be better tolerated if cooked. Vitamin deficiencies with HEDS are common and thought to be a result of poor absorption. It is recommended to check vitamin levels such as B vitamins, Vitamin D, as well as iron studies, as these are often low. Magnesium and Vitamin C supplementation may benefit as well. Supplementing vitamins and iron will not “cure” your problems, but they can help improve your baseline. Weight can be a real challenge, either too high or too low, which is an anecdotal finding that has not been studied thoroughly. Be kind to yourself, accept that this is another challenge you face that does not seem fair, and your other health challenges may be more urgent to address before you can attempt to improve your weight. And very importantly, being overweight or obese does not cause the comorbidities of HEDS, and you should not be gaslit into thinking that losing weight would fix all your pain. Also, patients, particularly young people, who are underweight from GI complications with HEDS are often told that they have eating disorders. It is especially important to address any medical issues that can cause weight loss or gain. Some patients require the aid of feeding tubes or TPN at times in their lives. Compression syndromes such as SMAS, and a condition called MALS (Median Arcuate Ligament Syndrome) should also be considered if there is vomiting or pain after eating, and unintentional weight loss, as these conditions can be associated with HEDS.

5) Fatigue has many causes in patients with HEDS. There are many potential causes of fatigue. Since connective tissue is weak and overstretched, and not holding our joints together effectively, our muscles are working overtime to literally just keep us held together. Trying to maintain a proper posture throughout the day causes quite a bit of muscle fatigue, draining us of our energy. Medications that treat pain, antihistamines, and anti-anxiety medications can have fatigue as a side effect. Poor sleep also contributes to fatigue and is discussed in the next section. It is particularly important to pace yourself and allow yourself to rest. The spoon theory, or analogy of a battery running on 5% can help explain your need for rest. If you have a task in the day that takes a lot of your energy, or spoons, you may need to postpone other big energy tasks until another day, to avoid over exerting yourself which leads to “crashes.” Sometimes even taking a shower and getting dressed can take all your spoons in one day. Some patients find smart watches, or devices that monitor activity levels can be helpful to help with pacing. Low-Dose Naltrexone, as discussed in the section on pain, can be helpful for fatigue in HEDS. Making sure your vitamin levels and iron stores are at good levels may help with fatigue as well. Fatigue is very real, and you are not lazy. In fact, patients dealing with HEDS must expend more energy than non-hypermobile people, just to hold themselves upright and function. It is actually a huge accomplishment to get through the day for many HEDS patients. Please do not feel guilty about resting, and do not let people imply that you are lazy. Physical therapy, along with working to get MCAS and POTS and GI issues under control can help to improve your level of fatigue.

6) Sleep- Most people with HEDS also have poor quality, non-restorative sleep and wake up not feeling refreshed. This, like most things with HEDS, has many potential causes. MCAS contributes to insomnia and poor sleep because histamine crosses the blood-brain barrier and causes poor sleep/more nighttime arousal. This makes sense, as antihistamines like Benadryl have been commonly used in the past to induce sleep by blocking the histamine receptors in the brain (Benadryl is no longer recommended as a sleep aid, as it is thought to lead to a higher risk of dementia). There is also a “dump” of histamine into our bloodstreams during the middle of the night, leading to increased itching and restlessness at night. Pain is also heightened at night. POTS contributes to poor sleep cycles as well. With POTS, we are often in a fight or flight mode with surges of adrenaline coursing through us. This leads to adrenal fatigue and overall fatigue. Poor sleep also worsens POTS symptoms, so this is another self-feeding vicious cycle leading to flares. Obstructive sleep apnea is also commonly seen with HEDS and causes poor quality sleep. Sleep studies may be of value. It is important to prioritize sleep. Along with proper sleep hygiene and comfortable surroundings, medications may be needed at times to help improve sleep. If legal where you live, cannabis can help produce higher quality sleep. A wide spectrum, CBD: CBN or CBG with or without a small amount of THC, taken in an edible form for longer lasting effects, has helped many HEDS patients. Noise-cancelling earbuds with relaxing music or frequencies designed to aid sleep can help. Body pillows or memory-foam pillows and mattress toppers may make you more comfortable. A condition called ME/CFS (Myalgic encephalomyelitis/chronic fatigue syndrome) is a more extreme level of chronic fatigue, which is sometimes seen with people with HEDS and Long Covid. This involves a symptom called post-exertional malaise, where even tiny amounts of exertion cause worsening of fatigue that can be difficult to recover from. Daily functioning is impaired at a higher level as well. That is discussed in more detail elsewhere.

7)Headaches. It sounds like a broken record, but headaches with HEDS can have many different causes. Chronic Migraines are common, and can be associated with an aura, and one-sided, pounding pain, which is worsened by light and noise, and helped with resting in a dark room. There are many medications available to help with this condition. Even if you have chronic migraines, you can have other types of headaches as well. TMJ dysfunction, with frequent subluxation/dislocation of the temporomandibular joint can cause facial pain, or pain in the jaw. Topical pain creams or gels, some of which can be compounded for maximum effect, or muscle relaxers, reserved for when symptoms become more severe, may be helpful. A dentist or oral surgeon who specializes in TMJ dysfunction may offer further management. Facial pain, or pain in neck or throat, that is triggered by swallowing or moving the jaw, may be indicative of Eagle Syndrome, which is a condition related to elongated styloid process. Cervicogenic headaches happen frequently and are felt as more squeezing or pain in the back of head and neck. Poor posture and hunching over looking at a phone can worsen this. Craniocervical instability (CCI) is a potentially serious complication of HEDS, and every effort should be made to avoid having “work” done on your neck by a provider who is not familiar with craniocervical instability. PT with a knowledgeable provider can be a good place to start if you are experiencing symptoms of craniocervical instability. Craniocervical instability is often missed by radiologists, neurologists, or neurosurgeons not familiar with HEDS and CCI. Tension headaches feel like a band squeezing around your forehead and top of head. POTS can lead to “coat hanger pain,” which is along the back of your shoulders and base of neck, and is thought to be caused by poor blood flow to the top of the body. That same poor blood flow can also cause pain in the head. Headaches can be caused by high pressure in the brain, or from low pressure. Both are potentially serious and should be evaluated. Cerebrospinal fluid leaks can spontaneously occur in patients with HEDS and cause extreme headaches when upright and are relieved when lying flat. In general, if you are having daily headaches, or worsening of any of the above types of headaches, you should be further evaluated to determine the next steps. Keeping a headache journal can be useful to differentiate different causes and triggers.

8) Urinary Symptoms. Females with HEDS often suffer from over-active bladder, which can cause urinary frequency, urgency (having to run quickly to the bathroom), hesitancy (trouble starting the stream), feeling as if the bladder has not fully emptied, and incontinence. Pelvic floor PT can be extremely helpful for many HEDS patients. It involves strengthening the muscles of the pelvic girdle, which in turn strengthens hips, which is another bonus for HEDS patients. It can help prevent and treat prolapse as well. Another potential problem is interstitial cystitis, thought to be due to the presence of mast cells in the bladder. It is a classic example of an HEDS patient having symptoms of UTI and having the urine dip stick show some indicators of infection, but then the culture sent away to the lab does not grow out enough bacteria to confirm UTI. This may be due to colonization of the bladder wall with bacteria. D-Mannose supplements can be helpful as a preventative measure, or once UTI symptoms start. Patients should still be evaluated for possible UTI when symptoms develop. Bladder problems can also be caused by POTS/dysautonomia. It is also a potential side effect of many medications. There is a condition called occult tethered cord syndrome that has been getting more attention as a more common potential complication of HEDS in recent years. Overactive bladder symptoms progress and worsen over time, in combination with possible bowel symptoms (worsening constipation), with pain and weakness in lower back and legs. This is something that should be evaluated with a provider familiar with Occult Tethered Cord syndrome if you are suspicious.

9) Menstrual issues. Many females with HEDS suffer from difficult periods, with increased pain and heavy bleeding. PCOS and Endometriosis are seen at higher rates with HEDS and should be evaluated if suspected. Heavy bleeding can lead to low iron stores, which worsens POTS, so it is important to supplement with iron if you are deficient. Hormonal swings can cause flares and worsening of HEDS/POTS/MCAS. Some patients benefit from oral contraceptive pills to help control symptoms and lessen hormonal swings. Often, female patients start to become more symptomatic with HEDS during puberty. Prolapse of organs (where bladder, uterus or bowel drop down and sometimes can be felt outside of the pelvis) is more frequent with HEDS. Pelvic floor PT can help with this.

10) Mental health- there are remarkably high rates of Anxiety with HEDS. It seems to be hard-wired among many of us. Again, there are many potential causes with HEDS. With MCAS, histamine crosses into the brain and can cause anxiety symptoms. POTS can also contribute, as the surges of adrenaline with the fight or flight can cause symptoms that feel like panic attacks. It is important to remember that anxiety does not cause HEDS, it is not all in your head, but it is another comorbidity of HEDS. Depression may be seen at higher rates because of ALL the associated health burdens we deal with. Again, it is important to stress that depression does not cause HEDS symptoms but seems to be a result of our health. Stress definitely can make symptoms flare, so it is important to manage your stress. There are many available medications to treat anxiety, OCD, and depression. Benzodiazepines can be particularly useful, taken in smaller doses, as they act to stabilize mast cells and can help reduce the flares caused by stress. Talking to a therapist, particularly one familiar with treating patients with chronic health issues, can be helpful. A psychiatrist to help with psychiatric medical management may help, as we tend to be more complex, and have more reactions to medications. Neurodiversity is now becoming more recognized as another comorbidity of HEDS. There are higher rates of ADHD and Autism, which may present later in life, or be more challenging to diagnose because of the overlap of HEDS comorbidities. ADHD medication has benefited many HEDS patients, but it can cause increased anxiety, insomnia, and poor appetite. This is another reason to consider involving a psychiatrist equipped to manage more complex cases. It can be a particular challenge for an autistic patient to try to meet new providers and explain their complex condition. Sometimes it is helpful to take a partner, or parent, or close friend, to help support with the appointments. It is ok to ask for more direct questions, instead of open ended questions, which can be challenging. Often, autistic females have a very delayed diagnosis, especially if they have HEDS with anxiety sensitivities to the environment.

11) Surgeries. In general, it is best to avoid surgeries, if possible, with HEDS. There is a lower rate of successful surgeries, with higher rates of complications. There is poor wound healing, potential mast cell reactions to anesthesia, more difficulties managing vitals due to POTS, and difficult IV access, and reactions to adhesives and tapes. Strategies such as targeted physical therapy and prolotherapy have helped to delay the need for surgery. If surgery is needed, it is best to optimize nutrition and have POTS and MCAS under the best possible control prior to surgery. Discuss with the surgeon and anesthesiologist your HEDS and comorbidities. It is recommended that you are moved gently when asleep, to avoid dislocating joints. Mast Cell Protocol involves use of steroids such as Decadron, along with IV Pepcid and Benadryl before surgery, and then a taper of Decadron after surgery. This protocol varies and should be discussed with your surgeon. Surgery is obviously a big trigger for a flare, which can delay recovery, so controlling MCAS and POTS before, during and after surgery can help. Protection of the cervical spine is also crucial during surgery. It is optimal to have a surgeon familiar with HEDS if possible.

12) Miscellaneous:

A) There is a higher rate of auto-immune disease noted in patients with HEDS. It can be difficult to differentiate the symptoms of auto-immune disease and HEDS, and often rheumatologists do not want to take on any new patients with HEDS. Frequently, patients with HEDS and POTS can have a mildly elevated ANA, which is not consistent with Lupus (higher titers of ANA are usually seen with Lupus). In general, remarkably elevated levels of inflammation in the blood are not seen with HEDS and should be evaluated further.

B) proprioception, or the sense of where your body is in space, is altered with HEDS. This is thought to be because proprioceptive cells are in our skin, which is not stable. This is why often, patients with HEDS are considered clumsy, running into door frames and furniture, leaving large bruises, because we also have easy bruising with HEDS. Keep your eyes open and look at the stairs so you do not trip! And if you are not able to gracefully catch a ball, blame your proprioception!

C) If you have a certain baseline of your symptoms, and you suddenly become more unglued, fall off the tracks, think about possible triggers. If you were able to walk up stairs, and walk a few blocks, and you are no longer able, consider that it may not be just deconditioning, but something neurosurgical like CCI or Occult Tethered Cord Syndrome. If you have worsening fatigue or other symptoms after Covid or Mono or are in an area prone to ticks, consider looking into this further.

D) There have been studies that show that many patients with HEDS and MCAS have immune systems that are not as robust as others. We may be more prone to frequent infections, many of us had chronic strep throat or ear infections as a child, may deal with chronic sinus infections, and may not mount a proper immune response to vaccines. Many children with hypermobility miss school frequently, which can cause problems with school districts and with keeping up with peers. Immune deficiencies can be the cause of worsening MCAS. The use of frequent antibiotics as a child alters the gut biome and can make us more prone to problems with our immune systems (including MCAS and auto immune conditions) and problems without digestive systems like leaky gut.

E) Compression syndromes such as May-Thurner Syndrome, Thoracic Outlet Syndrome, Superior Mesenteric Artery Syndrome, can be seen more frequently in patients with HEDS, and are challenging to diagnose.

F) I consider people with HEDS to be the strongest, most resilient, creative, intelligent, empathetic bunch of people around. It is unfortunate that so many of us have been treated poorly by the medical community. Thankfully, in the past few years, there have been more and more EDS aware providers, and more that are willing to learn. I hope you feel a sense of validation and hope after learning about how HEDS affects you. Feel free to share this information with family and friends so they can understand what you have been dealing with, give you the support, and understanding you deserve. Better days lie ahead!

Resources that may interest you:

1)Disjointed Book, by Diana Jovin, with chapters written by leading experts in the field. Disjointed Navigating the Diagnosis and Management of Hypermobile Ehlers Danlos Syndrome and Hypermobility Spectrum Disorders

2) Bendy Bodies Podcast, with Dr Linda Bluestein Bendy Bodies: Your Guide to Hypermobility Health and EDS

3) Unraveled: Understanding Complex Illness Podcast/Youtube series by Drs Kauffman and Ruhoy Unraveled: Understanding Complex Illness - YouTube

4) Ehlers-Danlos Society website Home - The Ehlers Danlos Society

5) Dysautonomia International website Dysautonomia International: Dysautonomia Awareness, Dysautonomia Advocacy, Dysautonomia Advancement

6) Mast Cell Action Website Home | Mast Cell Action

7) The Zebra Club, with Jeannie Di bon, a monthly subscription app for healthy movement/exercise with hypermobility The Zebra Club App | Movement Therapy for EDS and Hypermobility

8) Local Facebook groups for EDS/HSD, generally an excellent source for sharing knowledge with other zebras, with recommendations about medical providers that may or may not be EDS knowledgeable/friendly. Local in-person meetings are part of these groups as well, a great way to meet other zebras in your area.