Identifying Dysautonomia

What is it?

Dysautonomia is not a diagnosis. It is a term used to describe any disorder of the autonomic (automatic) nervous system.

Dysautonomia (Dis-auto-NO-mia) is an umbrella term used to describe any disorder of the autonomic (or automatic) nervous system. The autonomic nervous system is the part of the nervous system that regulates functions that are automatic in nature such as heart rate, blood pressure, digestion, excretion, perspiration, temperature regulation, pupil dilation, circulation, and respiration among others. The autonomic nervous system is responsible for maintaining homeostasis, or equilibrium, in the body. When there is a dysfunction or failure of the autonomic nervous system the result is a disorder classified as a type of dysautonomia. These disorders can be mild to debilitating, and usually involve abnormal symptoms in many organ systems, including cardiac, gastrointestinal, neurological, and pulmonary, as well as others.

Invisible But Real

Dysautonomia, an invisible illness, may be one of the most misdiagnosed medical conditions of all time. The biggest problem in autonomic medicine today is the lack of knowledge about dysautonomia in communities and especially community-based healthcare professionals. While there is not a cure for dysautonomia, once this condition is diagnosed, symptoms can be managed. Therefore, it is important to find a local healthcare professional who is educated about dysautonomias or is willing to become educated.

Types of Dysautonomia

There are at least 15 distinct dysautonomias; the most common are postural orthostatic tachycardia syndrome (POTS) and neurocardiogenic syncope.

There are many forms of dysautonomia that can occur at any age: pediatric, adult, and/or geriatric. These autonomic nervous system disorders usually involve abnormal symptoms in many organs systems including cardiac, gastrointestinal, neurological, pulmonary, as well as others. Dysautonomias can range from mild to disabling and may or may not be neurodegenerative. (Since there are many forms of dysautonomia we use the singular term “dysautonomia” to reference autonomic disorders in general or when referring to a specific condition such as “orthostatic hypotension.” We use “dysautonomias,” plural, when referring to many disorders of the autonomic nervous system.)

Pediatric: Also known as genetic or hereditary dysautonomias, these conditions often reflect problems or mutations which occur during the development of the autonomic nervous system. One type of mutation, found almost exclusively in people of Ashkenazi Jewish heritage, affects the autonomic and sensory nervous system development causing familial dysautonomia. Another mutation causes an increased level of phenylalanine (Phe) in the bloodstream causing a metabolic disorder called phenylketonuria (PKU). Another mutation in the ATP7A gene that is responsible for transporting copper throughout the body causes “kinky hair” and is known as Menkes disease. In Hirschsprung’s disease there is a lack of development of nerve cells in the enteric nervous system. Other pediatric dysautonomias include: hereditary sensory and autonomic neuropathy (HSAN), congenital central hypoventilation syndrome (CCHS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). In general, dysautonomias in early childhood are rare.

Teen/Adult Onset: In teens and adults, dysautonomias usually reflect functional changes in a generally intact autonomic nervous system. Dysautonomias in adults often are associated with, and may be secondary to, another disease process or a drug. Common secondary causes include medications, chemotherapy, radiation treatments, spinal cord or head injury, or diabetes (such as diabetic autonomic neuropathy). Less commonly the body’s immune system mistakenly attacks and damages certain parts of the autonomic nervous system in autoimmune autonomic ganglionopathy.

The most common forms of adult onset dysautonomia are:

Autonomically Mediated Syncope Also called vasovagal syncope, neurally mediated syncope or neurocardiogenic syncope, individuals with autonomically mediated syncope suffer from frequent episodes of fainting or near fainting where the blood pressure drops by 20 mmHg systolic/ 10 mmHg diastolic with upright posture. Most patients have symptoms with little change in heart rate. In some cases the drop in blood pressure occurs as a compensatory function following tachycardia, as seen in POTS, or bradycardia can precede a drop in blood pressure.

Postural Orthostatic Tachycardia Syndrome (POTS) POTS is the most common dysautonomia and is characterized by symptoms in multiple organ systems and an abnormal increase in heart rate (30 bpm in adults, 40 bpm in teens) upon standing. POTS is a common but underrecognized health condition affecting an estimated 1 in 100 teenagers and, in the United States, as many as 3 million adult and teen patients combined. POTS is a dysfunction of the autonomic nervous system that involves abnormal symptoms in many parts of the body, including abnormal blood flow to the heart, lungs and brain. It often involves problems with digestion, temperature regulation, and many other involuntary functions of the body. Because the condition involves the autonomic nervous system, which regulates mostly internal functions, it is commonly known as an “invisible illness.”

Geriatric: In the elderly, dysautonomia typically reflects a neurodegenerative disease. The degeneration may be in the form of lesions in the central nervous system, as in multiple system atrophy (MSA), or in loss of autonomic nerves not involving the central nervous system, as in pure autonomic failure (PAF). Most geriatric cases involve damage to nerves that results in loss of autonomic reflexes, also known as autonomic failure. It is common in geriatric patients to experience some orthostatic hypotension which is characterized by a drop in blood pressure upon standing. Neurogenic orthostatic hypotension is a neurodegenerative form of dysautonomia in which the autonomic system loses the ability to properly regulate blood pressure as one moves from sitting or lying down to standing.

Primary, Secondary or Idiopathic?

Regardless of when a dysautonomia occurs in life, these disorders can be primary, secondary, or idiopathic. A primary dysautonomia is when we know autonomic dysfunction is the main disease process. Examples of primary dysautonomias include familial dysautonomia, multiple system atrophy, pure autonomic failure, and some forms of syncope among others. Secondary dysautonomias are experienced as a consequence of another disease process, as in autonomic neuropathy associated with diabetes or POTS as a result of an auto-immune disease. Idiopathic dysautonomias are autonomic nervous system disorders where the main disease process is unknown. The pathophysiology of most dysautonomias is complex and not well known therefore it is helpful to discuss with your doctor if your dysautonomia is a primary, secondary, or idiopathic disorder.

Coexisting Conditions?

Since dysautonomia patients experience many symptoms from multiple organ systems it is helpful to consider the possibility of underlying causes or coexisting conditions. Here is a sample list of common coexisting conditions associated with dysautonomias.

Coexisting Condition	Autonomic Symptoms
Autoimmune Autonomic Ganglionopathy (AAG)	Orthostatic hypotension (OH), gastrointestinal issues, urinary retention.
Autoimmune Encephalopathy	Excessive sweating, labile blood pressure and heart rate.
Celiac Disease	Gastrointestinal issues.
Charcot-Marie-Tooth Disease	Progressive foot drop, imbalance, sensory loss, gait abnormalities, autonomic neuropathy, abnormal heart rhythms, and difficulty breathing.
Chiari Malformation	Neck pain, balance problems, numbness in the arms and legs, ringing in the ears, headache made worse by coughing or straining.
Chronic Regional Pain Syndrome	Constant burning pain, pain that is disproportionate (more than what it should be), one limb that is or has experienced pain and swelling with or without trauma.
Diabetes	Chronic pain in feet, urinary problems, erectile problems in males.
Ehlers-Danlos Syndrome	Hypermobile joints, history of multiple dislocated joints, stretchy skin, very thin skin.
Guillain-Barre Syndrome	Labile blood pressure and heart rate, constipation.
Mast Cell Activation Syndrome	Flushing (dry, hot, red face or upper body), multiple hypersensitivities, hives, anaphylaxis.
Median Arcuate Ligament Syndrome	Pain in the upper middle stomach area after eating, exercising, or shifting body position; bloating.
Paraneoplastic Autonomic Neuropathy	Gastroparesis, orthostatic hypotension.
Parkinson’s Disease	Orthostatic hypotension, sexual dysfunction, swallowing or gastrointestinal disorders, bowel and bladder abnormalities, and sleep disturbance.
Sjogren's Syndrome	Dry eyes and dry mouth, fatigue, orthostatic tachycardia.
Sleep Disorders	Difficulty staying awake, difficulty sleeping, commonly experience unrefreshed sleep.
Systemic Lupus Erythematosus (SLE)	Skin rashes, paresthesias, fatigue.

Fast Facts

Postural orthostatic tachycardia syndrome (POTS) affects an estimated 1 out of 100 teens.
A simple orthostatic vitals test can help doctors confirm a suspected dysautonomia diagnosis.

Dysautonomia Symptom Checker

The symptoms experienced by dysautonomia patients vary based on the type of autonomic dysfunction and where the dysfunction is occurring within the body. Since dysautonomias affect multiple organ systems the presentation of symptoms are heterogenous, widely varying between different individuals. For example, one patient with POTS may have the chief complaint of abdominal pain while the next POTS patient complains most about migraine headaches. The organ systems most commonly affected in POTS are neurological, pulmonary, cardiovascular, urinary, gastrointestinal, secretomotor and pupillomotor. One interesting common sign of autonomic dysfunction is the difficulty maintaining upright posture, also known as orthostatic intolerance.

Difficulty Standing Still
Fatigue
Lightheadedness
Nausea and Other GI Symptoms
Brain Fog and Mental Clouding
Palpitations or Chest Discomfort
Shortness of Breath or Difficulty Breathing

The following graphic depicts common symptoms and affected organ systems. Common pupillomotor symptoms include impaired pupil response (uncomfortable in bright light) and impaired vision. Neurological symptoms often include migraine, cognitive deficits, brain fog and mental clouding. Pulmonary symptoms comprise shortness of breath, easily winded, and difficulty breathing. Cardiovascular symptoms include palpitations, chest discomfort, high heart rate (tachycardia), low heart rate (bradycardia), high or low blood pressure, abnormal blood pressure functioning, and blood pooling. Urinary symptoms consist of difficulty with urine retention and/or excretion. Common gastrointestinal symptoms include nausea, vomiting, diarrhea, constipation, abdominal pain, reflux, heartburn, and impaired motility. Secretomotor symptoms include difficulty sweating, tearning, and other fluid production (dry eyes, dry mouth, difficulty swallowing, dry skin). Finally, signs of Orthostatic Intolerance involve difficulty standing still, fatigue, lightheadedness, increase in symptoms with upright posture, fainting (syncope) or near-fainting, and pallor.

In patients with orthostatic intolerance or orthostatic hypotension, standing upright can result in an annoying pain in the back of the neck and shoulders. Because of the distribution of the discomfort, this is sometimes referred to as the “coat hanger sign” which occurs as pain in the back of the neck when standing. The exact mechanism of the coat hanger phenomenon is unknown, but one theory suggests it is a kind of cramp caused when the antigravity muscles holding up the head receive too little blood flow.