While discussing dysautonomia, the principles in this article affect sufferers of many rare diseases and disorders.
Dysautonomia Can Affect Digestive, Skeletal, Respiratory and Cardiovascular Systems
Something is obviously wrong. You know you’re sick but family, friends and perhaps even physicians disagree. Your eyes may be dry; vision is blurred. You have headaches, dizziness (vertigo), fatigue, excessive thirst (polydipsia), intestinal issues (reflux, nausea, constipation, diarrhea), slow or rapid heartbeat (tachycardia), excessive sweating (hyperhidrosis), perspiration depletion (anhidrosis), nerve pain or numbness (paresthesia or neuropathy), and joint pain (arthralgia or myalgia). 
So why might a physician fail to put the debilitating symptoms together and diagnose dysautonomia, also called POTS?
Doctors are trained to first consider obvious, common ailments before delving into the abstruse. Make no mistake; for good reason, dysautonomia is a complex mystery to the average physician.  Hence, it is more likely that symptoms will initially be evaluated separately rather than comprehensively.
Why Doctors Assume Mental Illness
If several tests return negative results, a doctor may reluctantly investigate an additional symptom or two. With a body of negative (no tumors) or inconclusive tests, medical doctors begin suspecting a psychological disorder. It’s nothing personal but, truthfully, diffused physical symptoms and fatigue do point to depression, Munchausen syndrome, or a psychosomatic manifestation.
The neurotransmitters that influence both pain and mood are serotonin and norepinephrine. Dysregulation of these transmitters can therefore cause depression and pain. [3,4] The list of symptoms can sound like a resume for hypochondria. The problem is, it also suggests dysautonomia if enough key markers are identified.
Frankly, of the various options, depression is both popular and more easily treated.  There is no shame in receiving appropriate talk therapy and/or medication if the root cause of physical symptoms is mental or emotional. There is a danger in ignoring the statistically more probable mental illness in favor of a more rare dysautonomia conclusion. Most doctors prefer to side with the statistics. And generally, this works out well.
Given the limited time for patient evaluations (often less than 10 minutes), a primary care physician may feel it is comforting to reassure a patient that she is “healthy” or “fine” physically if a psychiatric genesis is suspected. Because most symptoms lack obvious external presentations, others may say, “You don’t look sick.”
It may require indefatigability o convince medical care professionals otherwise, particularly after drugs with their own side effects are introduced. Consider though, that with stress as a trigger and anxiety as a symptom, psychiatric sessions may be appropriate even with a dysautonomia diagnosis.
Primary care physicians (PCP) generally take initial complaints seriously and may refer patients to specialists. For example, a patient that complains of dizziness might be tested for vestibular anomalies by an otolaryngologist. Such tests have the goal of ruling out Ménière Disease (with a series of hearing tests) to focus on Benign Positional Proximal Vertigo (BPPV).
A gastroenterologist performs an endoscopy to identify obstructions or ulcers. After an X-ray and blood test to rule out Rheumatoid Arthritis, the primary care physician or rheumatologist will generally suggest an OTC pain reliever or NSAID to a patient presenting joint pain.
Ruling out one major disease is not the same as diagnosing a cause. It is like an individual helping you look for lost car keys without knowing where you’ve been. The shout: “It’s not under the seat cushions” is helpful but doesn’t get you on the road.
While one or more specialists are treating the patient, it is easy for the primary physician to conclude that the matter is being resolved. Indeed, as the patient file swells with lab tests and follow-up visits, it appears progress is being made.
Meanwhile, months or years can elapse as the patient continues to suffer from the entire body of symptoms that are, perhaps, largely ignored. While various specialists’ search for tumors, inflammation and ulcers appears diligent, the suffering can be originating from a deeper autonomic level.
Between 75 and 80 percent of POTS patients are female and of the menstruating age. Most male patients develop POTS in their early to mid-teens during a growth spurt or following viral or bacterial infection. Some women develop POTS symptoms with pregnancy.
Complexities of Autonomic Disorders
Dysautonomia literally means dysregulation of the autonomic nervous system (ANS). The ANS controls involuntary bodily synergies between the sympathetic and parasympathetic nervous symptoms. Necessary involuntary functions include things like heartbeat, breathing, digestion, and body temperature regulation. Studies have also linked the nervous system to the immune system, suggesting a possible correlation between ANS and autoimmune disorders. 
In dysautonomia, the ANS does not respond to stimuli appropriately. Dependent upon the patient, either the parasympathetic or sympathetic nervous system can be hyporesponsive or hyperresponsive, often heightened by physiologic and psychlogic stress. In those with mitochondrial dysautonomia, mitochondrial dysfunction is believed to cause the dysautonomia. 
Since mitochondria provides a source of energy for cells, fatigue related diseases are common among mitochondrial myopathies. Nerve cells in the brain and muscles require significant energy and are depleted with mitochondrial malfunction. 
Abnormal regulation of body temperature in mitochondrial disease patients is common, resulting in either a lower or higher baseline body temperature (commonly 96-97 degrees Fahrenheit) or a distinct intolerance to heat or cold. 
Pure Autonomic Failure (PAF), also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension, is a form of dysautonomia. It is a degenerative disease of the autonomic nervous system. Symptoms include dizziness and fainting (caused by orthostatic hypotension), visual disturbances and neck pain. Chest pain, fatigue and sexual dysfunction are less common but may also occur. Symptoms worsen when standing.
Multifarious symptoms make dysautonomia difficult to diagnose. There are even variations of the disease. The most bothersome feature can differ from one patient to the next. Or the symptom receiving primary attention may depend upon physician predilection. Specific lab tests can be ordered but dysautonomia must first be suspected so the tests can be specified.
Unfortunately, pathologies can sometimes be inconclusive. Therefore, lab results must be corroborated with additional symptoms reported by the patient.  This requires the medical care professional to develop confidence in the patient’s descriptions.
Within the list below are some symptoms of postural tachycardia syndrome (POTS) with a prevalence of 1/100. One of the more striking physical features in POTS is acrocyanosis with the gross change in extremity skin color (pallor) that can occur with standing. Some patients with POTS have low plasma volumes; deficit of 12.8±2.0% (p<0.001). 
Criteria for POTS
- Heart rate increase ≥30 beats per minute from supine to standing (5-30 min)
- Symptoms get worse with standing and better with recumbence
- Symptoms lasting ≥6 months
- Standing plasma norepinephrine ≥600 pg/ml (≥3.5 nM)
- Absence of other overt cause of orthostatic symptoms or tachycardia (e.g. active bleeding, acute dehydration, medications)
Symptoms include mental clouding (“brain fog”), blurred or tunneled vision, shortness of breath, palpitation, tremulousness, chest discomfort, headache, lightheadedness and nausea. Symptoms cause patients to rest for long periods. Onlookers might assume they are lazy. While pre-syncope is common in these patients, only a minority (~30%) actually pass out. The chest pains are almost never due to coronary artery obstruction, but are sometimes associated with electrocardio-graphic changes in the inferior leads, particularly when upright. 
Tachycardia, also called tachyarrhythmia, is a heart rate that exceeds the normal resting rate. In general, a resting heart rate over 100 beats per minute is accepted as tachycardia in adults.
Body thermoregulation malfunction, tachycardia, and lacrimation anomalies, are significant features of dysautonomia. Familial Dysautonomia is most aggressive but is uncommon among non-Jewish patients. The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000. 
Types of Dysautonomia
|Dysautonomia Differential||Primary Features|
|Postural Orthostatic Tachycardia Syndrome (POTS)||More common in females 4:1, primary symptom is increased heart rate with fatigue triggered by standing. Acrocyanosis is present in 40-50% of patients, headaches malaise, and cognitive impairment.|
|Hyperadrenergic POTS||Strong familial link; includes primary symptoms of POTS, along with light sensitivity, stress intolerance, slurred speech, adrenergic urticaria, and medication sensitivity. |
|Pure Autonomic Failure (PAF)||Bradbury-Eggleston syndrome is a degenerative disorder of autonomic nervous system affecting more middle-age males than females.|
|Familial Dysautonomia (FD)||Riley-Day syndrome affects development and function of nerves primarily among people of Eastern European Jewish heritage. Lacrimal anomalies (99%), skin blotching (99%), hyperperspiration (99%), absent patellar tendon reflexes, absent fungiform tongue papillae, taste reduction, postural hypotension, GI disorders, acid reflux, bladder dysfunction, temperature dysregulation, recurrent pneumonia, fingernail dystrophy, delayed menarche, irregular menstrual cycles, psychiatric syndromes. [13-16]|
|Mitral Valve Prolapse Dysautonomia (MVP)||Barlow syndrome; Systolic click-murmur syndrome; disorder affecting valve separating upper and lower chambers of the heart.|
Partial List of Secondary Illnesses
|Dysautonomia Differential||Primary Features|
|Vasovagal or Neurocardiogenic Syncope (NCS)||Fainting, dizziness|
|Fibromyalgia||Fatigue and body-wide pain in joints and muscles more common among females 9:1.|
|Chronic Fatigue Syndrome (CFS)||Prolonged and severe tiredness or weariness not relieved by rest. Sometimes called myalgic encephalomyelitis (ME) and, more recently, systemic exertion intolerance disease (SEID). Although CFS/ME and SEID share the same major symptom of chronic fatigue, there is variation between the definitions of these disorders. |
|Post Traumatic Stress Disorder (PTSD)||Extreme stress experienced by veterans of war or traumatizing event such as rape or assault.|
|Panic Attacks (Anxiety)||Anxiety disorder in which someone has repeated episodes of intense fear.|
|Inappropriate Sinus Tachycardia (IST)||Abnormally high resting heart rate that increases with minimal exertion, fatigue, dizziness, paresthesia, pre-syncope, GI disturbance.|
|Irritable Bowel Syndrome (IBS)||Abdominal pain and cramping, as well as changes in bowel movements.|
|Type 1 diabetes||Insulin deregulation; autoimmune disorders.|
|Lyme disease||Generally originating from an infected tick bite.|
A multitude of disorders can produce POTS-like symptoms. It is important that physicians attempt to identify possible causes of a patient’s orthostatic intolerance, as many secondary disorders are treatable. Some entities that can contribute to one’s orthostatic intolerance include:
Adrenal disorders, anemia, autoimmune disorders, cardiac atrophy, cardiac disease, cervical stenosis, chemical exposure, Chiari malformation, diabetes, Ehlers-Danlos Syndrome (EDS), electrical injury, gastric bypass surgery, lipodystrophy, liver disease, mast-cell activation disorders, mitochondrial disease, neuropathy, nitric oxide deficit, norepinephrine transporter deficiency, nutcraker phenomenon, nutritional deficiencies, multiple sclerosis, parasites, Parkinson's, porphyrias, syringomyelia, tumors, thyroid disease and viruses. 
Fibromyalgia, affecting about 3% of the population, is most common among women and characterized by chronic, heightened painful response to pressure, debilitating fatigue, sleep disturbance, joint stiffness, difficulty swallowing, bowel and bladder abnormalities, numbness and tingling, cognitive dysfunction, depression and anxiety.
Diagnosing dysautonomia is half the battle. How does one cope? For many patients, what’s most comforting is recognition that the ailment has a real name and they are not just lazy or imagining ills. Unless a doctor has significant experience treating patients with dysautonomia or mitochondria disorders it is likely that the patient receives, at best, palliative rather than comprehensive care.
Dysautonomia specialists, perhaps with extra training in neurophysiology, biophysics or cardiology, are likely to have greater empathy and more patience in the search for answers. Compassionate realization of patient limitations are considered in the treatment regimen.
In defense of doctors inexperienced with dysautonomia, since there currently is no cure for dysautonomia (though some patients outgrow it), empirical symptom-based treatment offered from the outset can be beneficial.
So what’s the advantage of a dysautonomia specialist? The difference is that symptoms dismissed by the general practitioner can be properly recognized to effectively monitor overall disease progression or improvement.
A PCP may vaguely recall that unresponsive patellar tendon reflexes is common in some form of dysautonomia (Familial Dysautonomia). If good reflexes are demonstrated, the notion of dysautonomia may be aborted altogether. Similarly, a PCP may be persuaded by the fact that FD is more prevalent among Jews. Though true, these suppositions would not establish a basis for ruling out every form of dysautonomia.
Recurrent bronchitis or pneumonia is another key FD symptom to a trained specialist; one that may be dismissed as a seasonal flu symptom by a PCP. A dysautonomia specialist is likely to prescribe different medication or treatment to address symptoms.
Watch Dysautonomia episode video
Regular exercise is routinely recommended. Patents may have to use discretion in how much physical exertion is practical. Alcohol can exacerbate symptoms. There are various ways of dealing with peripheral neuropathy. Additional dietary restrictions and suggestions are available from the Dysautonomia Information Network  or other organizations.
Those with other rare diseases may benefit from this article. The physician diagnostic principles and need for patient perseverance apply in many circumstances. October is Dysautonomia Awareness Month.
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- Autonomic Disorders. Riley-Day (HSAN 3). neuromuscular.wusti.edu/autonomic.html Retrieved 1 Oct 2017
- Neuropathy, Hereditary Sensory Autonomic. omim.org Retrieved 1 Oct 2017
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- How is POTS Detected? Dysautonomia Information Network. dinet.org Retrieved 1 Oct 2017
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