Dysautonomia: A Common but Commonly Undiagnosed Condition

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Dysautonomia is not a diagnosis but an umbrella term that refers to dysfunction of the autonomic nervous system (ANS), which can have a variety of complex causes. To better understand what dysautonomia is and what may cause it, we first need to have a basic grasp of the human nervous system.

Most of you are undoubtedly familiar with the central nervous system (CNS). The CNS is composed of the brain and the spinal cord, the latter which flows from the base of the brain stem into the spinal canal and is protected within the hard bony spine. But there is another system outside the CNS that bridges the gap between the CNS and the body. That system is called the peripheral nervous system (PNS).

The PNS is composed of two main branches: the ANS and the somatic nervous system (SNS). While the SNS is responsible for voluntary movements, such as operation of the skeletal muscle, the ANS controls involuntary processes, such as innervating smooth muscle within the vasculature and regulating bowel movements.

The ANS is further subdivided into the sympathetic, parasympathetic, and enteric nervous systems. The sympathetic and parasympathetic branches have somewhat opposing functions: while the sympathetic nervous system is responsible for responding to all the stresses of daily life (e.g., the fight or flight response), the parasympathetic branch instructs the body to relax, rest, and digest. Meanwhile, the enteric nervous system controls the nitty gritty of digestion, including motility, nutrient absorption, and the release of chemical messengers into the blood stream.

The-anxiety-cure-cbt4panic-fight-flight-response

One of the major chemical messengers of the sympathetic branch of the ANS is epinephrine, also known as “adrenaline.” The neurotransmitter, norepinephrine, is converted into the hormone, epinephrine, with the help of cortisol. Epinephrine stimulates adrenoreceptors, constricting blood vessels and increasing heart rate, blood flow to skeletal muscle, core temperature, sweat production, and glucose levels.

Acetylcholine, meanwhile, is one of the major chemical players in the parasympathetic nervous system. One of the major nerves in this system is the tenth cranial nerve, otherwise known as the “vagus nerve.” Stimulation of the vagus nerve can decrease heart rate and help to calm the sympathetic nervous system. For this reason, vagus nerve stimulation is a popular means to reduce anxiety, as well as treat autonomic dysfunction, and can involve methods such as slow-breathing exercises or yoga.

While one or more branches of the ANS may be disturbed in dysautonomia and symptoms across people can be highly individual, according to Freeman et al. (2015) in their book, The Dysautonomia Project, there are seven top signs and symptoms of dysautonomia:

Difficulty standing still
Fatigue
Lightheadedness
Nausea and other gastrointestinal symptoms
Brain fog or mental clouding
Palpitations or chest discomfort
Shortness of breath or difficulty breathing

Dysautonomia can be further subdivided into three broad causes:

  1. Diseases of Autonomic Development – These cases tend to arise during infancy or childhood and may due to a rare mutation or syndrome, such as Phenylketonuria (PKU).
  2. Autonomic System Malfunction – These are usually seen in adults (although subclinical symptoms may have been present since childhood) and reflect changes in the function (physiology) of the ANS. This can be secondary to a condition such as Ehlers-Danlos syndrome, autoimmunity, or Type 2 diabetes, or may be the result of medications, radiation exposure of the neck (e.g., treatment of various lymphomas), or alcoholism.
  3. Autonomic System Failure – These cases tend to occur later in life, are usually caused by some sort of neurodegenerative condition such as Parkinson’s, and are the result of damage to fibers of the ANS because of the disease process.

While some individuals may only experience episodic challenges with dysautonomia but are relatively unimpaired, others may have ongoing problems that lead to significant impairment. In fact, some people with dysautonomia may be so impaired that they’re unable to leave their beds for long periods of time.

So, treatment interventions. How do people with dysautonomia relieve their symptoms? For people who have mild-to-moderate symptoms, non-therapeutic interventions may be all you need to find significant improvement in your symptoms. They include:

  1. Increasing your water and sodium intake. Since a lot of people with dysautonomia (especially the form known as Postural Orthostatic Tachycardia Syndrome or POTS) have lower-than-normal blood volume, it’s important to bulk up on liquids and increase salt intake to help retain those fluids. But beware! Drinking cold liquids can sometimes trigger epinephrine release and dysautonomic symptoms. I personally have found greater success chugging lukewarm water throughout the day. I know it sounds gross but it works for me.
  2. Exercise. If you can, daily cardiovascular exercise, especially involving your legs, is really important to help retrain your ANS to function better. Some people may have zero tolerance for exercise and should work with a medical health professional to try to slowly work up some tolerance. But also choose your exercise times wisely. Many people with dysautonomia find mornings are the worst. So if you can, exercise later in the day when you’re least vulnerable to a flare-up. But just remember, because your legs help to pump blood back into the rest of your body, they’re essentially your second heart, so make use of them!
  3. Compression garments. Similar to the above concept of exercise, these socks help to keep blood from pooling in your legs.
  4. Small and frequent meals. Large meals shunt a lot of blood to your digestive system, potentially worsening symptoms. So eating smaller meals helps to prevent this. In addition, eating frequent meals and snacks helps to regulate your blood sugar better, which may keep your ANS from going on a glucose sugar ride throughout the day.
  5. Physical counter maneuvers. These include things like avoid standing still for long periods of time. Keep cool: heat can trigger an episode. If you take showers, sit on a shower stool. Also, since symptoms are often worse in the morning, consider taking a shower at night instead. Or, if you’re strange like me, forego showers altogether and take baths. Just be careful not to make the water too hot.
  6. Avoid stress but also plan for unavoidable stress. Stress, both emotional and physical, can be a major trigger even if that stress is “fun” like a birthday or dinner party. So take plenty of breaks when possible, keep up with fluids, and maybe even try some relaxation exercises before the event.
  7. Shit happens. No matter how hard you try, there are just gonna be some days you lose the dysautonomia battle. So be kind to yourself. There’s always tomorrow.

For some people, however, non-medicinal interventions simply aren’t enough and they require medications to help them get through the day. These can include:

  1. Medications that help with salt retention
  2. Vasoconstrictors
  3. Certain blood pressure medications
  4. Stimulants
  5. SSRIs
  6. Benzodiazepines
  7. IV saline
  8. Droxidopa (for individuals with autonomic failure)

Well, I hope much of this information has been helpful to those interested in dysautonomia, either for themselves, for a friend or family member, or for professional interests. Much of the information provided here can be found in the book, The Dysautonomia Project, by Freeman et al. (2015) and is a great guide for both patients and practitioners alike. Please feel free to note in the comments if you have any other book or article suggestions. I’m always eager to read and learn more!

12 responses to “Dysautonomia: A Common but Commonly Undiagnosed Condition

  1. I have a question about how the three broad causes relate to adolescence. My understanding is that the adolescence is a common time for onset of dysautonomia. If that is true, what is thought to underlie that tendency? Thanks again for this, Emily! Dysautonomia is an area about which I know little, and I’d like to learn more. : )

    • To be honest, I’m somewhat of a noobie myself to this whole dysautonomia thing, even though, in looking back, I have experienced it for many years. In terms of ANS dysfunction, like other commonly comorbid issues like connective tissue disorders and immune disorders like MCAS, these issues are significantly overrepresented in females, usually by at least 5:1, give or take. That alone suggests that hormones play a significant role in susceptibility in women, while men are, if anything, probably more likely to be carriers. So when you ask about onset in adolescence, which certainly seems to be the case– or at least a significant worsening of symptoms requiring diagnosis and intervention– it’s most likely down to hormones. That idea is reinforced by the fact that many women report a worsening of their symptoms following pregnancy, which again causes major hormonal disruption.

      • That’s such a great and fascinating point about hormones and the stats in females! Kind of reversed to the stats in autism (and maybe ADHD too — I should know, but I don’t), although I realize that the reasons for the female to male ratios can be all over the map. I also realize that some may be due to underdiagnosis, e.g. girls/women with autism may be underdiagnosed. I tried to post the following comment on your wonderful book review post. I’m not sure I succeeded, so I’ll post it below. Thank you so much for all you do!

      • Yes, it is ironic. And perhaps even moreso when considering that there seem to be causal links between EDS/dysautonomia/MCAS in females and autism in males (we have a study that should be coming out later this year that suggests strong ties between EDS in mothers and autism in the child). But also interesting that there are a number of studies that have found autistic kids often have a higher resting heart rate, which can be an indication of autonomic dysfunction. So even if they remain undiagnosed or subclinical, there are common threads running throughout.

      • I couldn’t remember the original citation offhand, but I know some of the orgs like Dysautonomia International suggest that those with one or more diagnoses under the umbrella are also at higher risk of hyperemesis gravidarum. That was not super fun to think about for my hypothetical future!

  2. Your book review post, and the discussion in the comments section, was fascinating, for general and personal reasons. My son’s geneticist cautions my son about activity that takes a toll on the joints. She says my son is very flexible. We have various neurodevelopmental/psych stuff in our family, autoimmune stuff and migraines. A rheumatologist noted some hypermobility in my mom. My son, now in middle school, has moderate ADHD and dysgraphia that affects both handwriting and writing composition. He loves to read, and he’s in GT classes at school, though his struggle with writing is very hard for him to balance with the courses he wants to take due to his love of reading. He had significant speech delay (a few words at age three). He taught himself to read soon after his speech came in. He was always in the “failure to thrive” category before he decided on and went ahead with a course of growth hormone. As a young child, he had abnormalities in his metabolic lab work, Including carnitine deficienty (with carnitine supplemented by his genetics doctor for most of childhood) and abnormal organic acid and acetylcarnitine profiles. Dr. Richard Frye was very kind to do a chart review for my son, and Dr. Frye found my son’s childhood characteristics to fit with some characteristics of a group he studies.
    Thank you to the woman who posted the amazing and touching dance video! My son loves to dance. He is in a wonderful noncompetitive children’s/teens dance company. His geneticist thinks it can be especially good for some of his struggles (e.g. ADHD), but tells him to be careful about the parts that tax the joints.
    I am so sorry, Emily, to hear of your struggles. You and your husband help so many people, and I hope some good help and relief comes your way! As always, thank you for this marvelous blog!

    • Yes, your son and your family do sound familiar to this whole mish-mosh of connective tissue disorder/immune disorder/neuro. In truth, I’ve been playing around with the idea of collecting these conditions under a single heading, perhaps calling it something like M.I.N.E. Syndrome, which would stand for musculoskeletal, immune, neurological, and endocrine (hormone). Whatever it all is, it’s clearly very common and can lead to a wide variety of outcomes! In our recent survey study, there is even some suggestion that the grandparents of women with Ehlers-Danlos syndrome/Hypermobility Spectrum Disorder may have higher rates of neurodegenerative disorders. So this general propensity may underlie a lot of common complex conditions.

      Thanks for your sympathies for some of the things I’m dealing with. While I’m by no means a severe case (thankfully!!), it’s definitely a challenging trying to adapt. It’s really hit me big time once I hit my mid 30s. My purse has turned into a pharmacy, LOL. And the South Carolina climate definitely doesn’t help. Seasonal allergens are horrific here.

  3. Emily, just saw your reply where you mentioned higher resting heart rate in autism, and EDS in mothers and autism in the child. That is fascinating! Thank you for your work, and will you let us know, here on the blog, where the paper involving maternal EDS and autism comes out? Also, if you have time, do you have thoughts on idea that maternal autoimmune disorder may relate to neurodevelopmental conditions? I sometimes wonder about my own situation, being pregnant with psoriatic arthritis. I also try to keep my focus on what we can practically do, but I find these topics fascinating in general. I also remind myself that, to state the obvious, not everything (or even many things) is about maternal (during pregnancy) conditions, or about genes passed down through generations of a family, although the cluttering of stuff in my family makes me wonder. Maybe a lot of it comes down to how common mild forms of many of these conditions are.
    Speaking of mild, I forgot to mention that my son had mild dysmorphic features and motor delay, probably because they were/are so mild. At this point, he struggles more with fine motor than with gross motor. He feels he is clumsy and uncoordinated, and it frustrates him.
    As I understand it, such challenges aren’t uncommon among people with neurodevelopmental conditions. Happily, he loves to dance, and it helps with it all. We’ll just try to avoid parts of it that are especially wearing on the joints. Thanks again to the woman who posted the marvelous dance video!

    • Yes, I’ll definitely be blogging about the paper when it comes out. Hoping it will be in a special issue in Frontiers on autism comorbidity.

      Regarding autoimmunity, that’s definitely way more common in this broad group of related conditions. And definitely moreso in women. Many with EDS/dysautonomia/MCAS have increased risk for developing an autoimmune disorder. In our recently finished survey study, interestingly we found that women with EDS/HSD who had an autistic child tended to report having more immune-related symptoms (suggesting a more severe immune disorder) than mothers with EDS/HSD but without autistic kids. So there does seem to be some suggestion that this immune phenotype is an important risk factor in autism.

      There are some mild facial dysmorphia that are more common in EDS/HSD, although that’s variable. If I recall correctly, it can include epicanthal folds, downslanting (antimongoloid) eyes, some mild effects to the cuff of the ears (which I’m forgetting at the moment), and effects to the mouth that are similar to those seen in Marfan syndrome like crowded teeth and high-arched palate.

      Concerning your son’s fine motor issues, are his fingers hypermobile? If so, there are ring splints made for people with hypermobile finger joints that keep them from hyperextending and help to improve their finger control. If he’s hypermobile and clumsy in general, that means his proprioception is probably quite poor at least in part because his joints are lax enough that they’re not providing his brain particularly accurate information of where his body is in space. Physical therapy to strengthen muscles can really help to reduce that laxity and may help improve his body awareness. Sometimes also doing exercises while closing the eyes makes the brain more attuned to the signals the body is sending. A physical therapist who’s really familiar with hypermobility should be able to help with that. 🙂

  4. My son has incurving 5th fingers, but I don’t know of hypermobility in his fingers. One of his feet slants outward (heel of foot/ankle), but I don’t know if that in particular relates to hypermobility. His most hypermobile joint is his elbow. Among the things his geneticist suggested watching due to hypermobility include anything with a lot of running or other pounding on the feet. Given that, it seems her concens definitely extend beyond his most hypermobile (elbow) joint. I plan to ask her a little more at the next appointment, partly because my son has been spending more and more time at the dance studio. Lucky for us, my guy isn’t into tap dance : ), and his favorite dance type is modern, a type with relatively more rolls and floor work. Thank you so much for explaining that some with such characteristics have poor proprioception, and that doing exercises with eyes closed is helpful to some! I had no idea. We can bring these questions to his doc and a PT, and this may well mean there are easy things we can do, things that can be easily added to activities he already enjoys.
    As far as facial features go, my son does have mild epicanthal folds. In fact, our pediatrician originally suggesting consultation with a geneticist (at 18 months) due to the question of mosaic downs. As it turned out, the geneticist said he didn’t appear to have mosaic downs. She has also tested for known genetics variants that result in Russel Silver Syndrome, and for a ketone utilization disorder. Those tests were negative.
    As is true with others with mild conditions, our biggest feeling by far is gratefulness. We are also so thankful for practical things we can do, and for the relief of gaining some possible understanding of it all, and the related opportunity to proceed with that possible understanding as one of the many things we can consider. Just the possiblity of gaining some insight into what might be going on with a mishmosh is a relief in itself, but, of course, with the accompanying understanding that possible insights are not always good news. Most of all, we hope that insight and help gets much, much better for those who suffer from conditions that are not mild. It’s painful to think of the lack of support, especially in adulthood.
    You have had so many interesting findings, and bases for future directions! We really, really appreciate your work. I hope that you are able to at least get breaks away from SC during the worst of allergy season. Here in Maryland, my son broke out his antihistamines this week, and it must be miserable in SC by now. I’ll ask my uncle. He lives in Charleston and is coming to visit in a couple of weeks. He’ll probably tell us how relatively good we’ve got it here. Of course, East Coast states can vary within themseves. He’s right on the ocean, so maybe it’s not so bad after all.
    Thanks again for everything!

    • I’ve noticed sometimes that cities directly on the coast tend to have an easier time when it comes to allergies, so hopefully Charleston isn’t quite as extreme as the upstate is. Unfortunately being in the foothills of the Appalachians, the allergy season is extensive here. There’s tons of flowering trees and shrubs, which start blooming in February, which leads into the grass season of summer, and finally into the extremely long and intense ragweed season of fall. I would say I get a break with our roughly two months of mild winter but that, alas, is the prime of dust season, LOL. Although I have found some relief using humidifiers about he house for winter.

      You said your son’s foot turns outwards. Do you think it’s an issue of function, like how he’s using the foot, or does he seem to have some minor malformation of the foot that causes the outward turn? If the former, again, a PT could help improve that. He may not be using muscles in the best ways, leading to poor use of the foot. I am slowly learning this myself as I am currently in PT for my feet, as I’ve had perpetual problems with my arches and injury to the large toe over the last several years and my PT is amazing. He’s a foot specialist and really fine tunes exercises that are making a remarkable difference in my ability to walk comfortably and without thinking. (I had forgotten what it was like to take one’s feet for granted!)

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