Cardiology

It’s Dysautonomia — Not Laziness

It’s Dysautonomia — Not Laziness

While discussing dysautonomia, the principles in this article affect sufferers of many rare diseases and disorders.

Dysautonomia Can Affect the Digestive, Skeletal, Respiratory, and Cardiovascular Systems

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Something is obviously wrong. You know you're sick but family, friends, and perhaps even physicians disagree. Your eyes may be dry; your 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). [1]

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. [2] Hence, it is more likely that your doctor will initially evaluate symptoms 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, that it also suggests dys­auto­nomia if enough key markers are identified.

Frankly, of the various options, depression is both popular and more easily treated. [5] 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.

It’s Dysautonomia—Not Laziness

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 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.

Compartmentalized Diagnosis

Primary care physicians (PCP) generally take initial complaints seriously and may refer patients to specialists. For example, a patient who 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 originate from a deeper autonomic level.

Between 75 and 80 percent of Postural Orthostatic Tachycardia Syndrome (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. [6]

In dysautonomia, the ANS does not respond to stimuli appro­priately. Depending upon the patient, either the para­sympa­thetic or sympathetic nervous system can be hypo­responsive or hyper­responsive, often heightened by physiologic and psych­ologic stress. In those with mitochon­drial dys­auto­nomia, mito­chon­drial dysfunc­tion is believed to cause the dys­auto­nomia. [7]

Since mitochondria provide 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. [8]

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. [9]

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. 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. [10] 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 of 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; a deficit of 12.8±2.0% (p<0.001). [11]

Criteria for POTS

  1. Heart rate increases ≥30 beats per minute from supine to standing (5-30 min)
  2. Symptoms get worse with standing and better with recumbence
  3. Symptoms lasting ≥6 months
  4. Standing plasma norepinephrine ≥600 pg/ml (≥3.5 nM)
  5. Absence of other overt causes 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%) pass out. The chest pains are rarely due to coronary artery obstruction but are sometimes associated with electrocardiographic changes in the inferior leads, particularly when upright. [11]

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 the 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. [15]

Types of Dysautonomia
Dysautonomia DifferentialPrimary 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 POTSStrong familial link; includes primary symptoms of POTS, along with light sensitivity, stress intol­erance, slurred speech, adrener­gic urticaria, and medica­tion sensi­tivity. [12]
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 Differen­tialPrimary Features
Vasovagal or Neuro­cardiogenic Syncope (NCS)Fainting, dizziness
Fibro­myalgiaFatigue 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. [19]
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 diabetesInsulin deregulation; auto­immune disorders.
Lyme diseaseGenerally originating from an infected tick bite.

A multitude of disorders can produce POTS-like symptoms. Physicians must 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, nutcracker phenomenon, nutritional deficiencies, multiple sclerosis, parasites, Parkinson’s, porphyrias, syringomyelia, tumors, thyroid disease and viruses. [16]

Fibromyalgia, affecting about 3% of the population, is most common among women and characterized by the 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.

Managing Dysautonomia

I Am Not Lazy

Diagnosing dysautonomia is half the battle. How does one cope? For many patients, what’s most comforting is the 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, the patient likely 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. Expect a more compas­sionate realiza­tion of patient limitations in the treatment regimen.

In defense of doctors lacking experience 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 the general practitioner might dismiss, receive appropriate recognition to effectively monitor overall disease progression or improvement.

A PCP may vaguely recall that unresponsive patellar tendon reflexes are common in some form of dys­auto­nomia (Familial Dysautonomia). If a patient demonstrates good reflexes, the doctor might dismiss the notion of dys­auto­nomia altogether. Similarly, the fact that FD is more prevalent among Jews might influence a PCP diagnosis. 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 medications or treatments to address symptoms.

Symptoms vary among individuals, depending on which systems are affected. For the patient in the video, the autonomic function of muscle contraction is disrupted following a saline infusion. The episode lasted several hours.

Experts often recommend a regular exercise routine. Patients must 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 [17] or other organizations.

Those with other rare diseases may benefit from this article. The physician’s diagnostic principles and need for patient perseverance apply in many circumstances. October is Dysautonomia Awareness Month.

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To support the writing of useful articles about cardiology, ClinicalPosters sells human anatomy charts, scientific posters, and other products online. You may sponsor specific articles or remit a small donation.

ClinicalPosters sells human anatomy charts, scientific posters, and other products online to offset expense of the writing useful articles about cardiology. Slide extra posters into DeuPair Frames without removing from the wall.

ClinicalPosters sells human anatomy charts, scientific posters, and other products online. You may remit a small donation.

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This popular article has been reviewed by a medical professional and viewed nearly a million times since it was originally published at ClinicalPosters.com on March 25, 2011.

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