PLEASE NOTE: Dysautonomia is not considered an autoimmune disease. It is however an umbrella of symptoms that can be disabling and debilitating and are often experienced by those with autoimmune diseases. Dysautonmia is extremely under-recognized and needs immediate attention and mass awareness.
What is it?
Dysautonomia is an umbrella medical term utilized for a group of complex conditions that are caused by dysfunction of the autonomic nervous system (ANS). The ANS regulates all of the unconscious functions of the body, including the cardiovascular system, the nervous system, the gastrointestinal system, metabolic system, and endocrine system. A dysfunction of the ANS can cause debilitating symptoms and may pose significant challenges for effective medical treatment.
Orthostatic intolerance (the inability to remain upright) is a hallmark of the various forms of dysautonomia.
Dysautonomia conditions can range from mild to extremely debilitating. Each dysautonomia case is unique and treatment must be individualized and may include pharmacological and non-pharmacological methods. Patients should be evaluated by a physician who is well-versed in the recent treatment modalities.
The symptoms of dysautonomia conditions are usually “invisible” to the untrained eye. The manifestations are occurring internally, and although the symptoms are verified medically they are often not visible on the outside. Symptoms can be unpredictable, may come and go, appear in any combination, and may vary in severity. Often patients will become more symptomatic after exposure to heat and stressors such as excitement or physical activity. Patients may find themselves involuntarily limiting their lifestyle activities and isolating themselves in order to compensate for the conditions.
Dysautonomia conditions are widely under-recognized in society at large. As a result, there exists a profound ignorance about these conditions. Most people do not realize the impact such conditions have on those afflicted and their families. Patients who have dysautonomia struggle with some of the most basic functions that healthy people take for granted, beginning with just getting out of bed in the morning. Each day and each moment brings new and unexpected obstacles. Determination, fortitude and tenacity are traits that are absolutely necessary for coping or obtaining any degree of recovery. Despite the betrayal of an uncooperative body, the most perseverant patients tend to face life with profound courage and incredible strength.
Autoimmune diseases and other causes of Dysautonomia
There are many underlying diseases and conditions that can lead to autonomic neuropathy. Medication side effects can also be a problem.
Primary causes of autonomic neuropathy include:
- Familial dysautonomia (Riley-Day syndrome)
- Idiopathic orthostatic hypotension (progressive autonomic failure)
- Multiple system atrophy with autonomic failure (Shy-Drager syndrome)
- Parkinson’s syndrome with autonomic failure
Secondary causes of autonomic neuropathy include:
- Amyloidosis (abnormal protein build-up)
- Autoimmune neuropathies (i.e., Guillain-Barre syndrome, myasthenia gravis, rheumatoid arthritis, Sjogren’s syndrome, and systemic lupus erythematosus)
- Carcinomatous autonomic neuropathy (often related to small-cell lung cancer)
- Deconditioning (a decrease in function due to inactivity or illness)
- Diabetes and pre-diabetes
- Human immunodeficiency virus (HIV)
- Lyme disease (a disease transmitted by ticks and causing flu-like symptoms)
- Nutritional deficiencies (i.e., vitamins B1, B3, B6, and B12)
- Paraneoplastic syndromes (disorders caused by an immune response to cancer)
- Physical trauma, surgery, pregnancy, or viral illness
- Porphyria (an enzyme disorder that mainly causes skin and/or nerve problems)
- Toxicity (i.e., alcoholism, chemotherapy drugs, and heavy metal poisoning)
- Treatment with medicines, including chemotherapy and anticholinergic drugs
Types of dysautonomia
There are at least 15 distinct dysautonomias; the most common are neurocardiogenic syncope and postural orthostatic tachycardia syndrome (POTS). Below is a summary of some of the more frequent dysautonomias.
Neurocardiogenic syncope (NCS) is the most common dysautonomia and affects tens of millions of people worldwide. The major symptom of NCS is fainting, also called syncope.
When standing, gravity pulls blood downward toward the lower extremities. This causes blood to drain from the brain. In a healthy person, the ANS tightens the muscles within the veins and alters the heart rate to make sure the blood does not pool in the feet and legs.
These mechanisms don’t always work correctly for people with ANS. This means they are more likely to faint as the blood briefly leaves the brain.
Some individuals with NCS might only faint rarely, but others might have difficulty carrying out normal tasks because fainting is so frequent.
Most treatments or interventions for NCS are aimed at preventing the symptoms. The following changes to one’s normal routine can make a big difference in those who have less serious cases of NCS:
- Increased fluid and salt intake can relieve most symptoms for some individuals
- Avoid standing in queues
- Take shorter, cooler showers
- Avoid saunas, hot baths, and sunbathing
- When standing, shift from one leg to the other and flex leg muscles
- Avoid alcohol
- Reduce caffeine intake
Postural orthostatic tachycardia syndrome
POTS is estimated to affect around 1 percent of all teenagers – somewhere between 1 and 3 million American teens. POTS is about five times more common in females than males.
POTS is normally caused by a secondary factor, but it is often difficult to work out what that is. Symptoms of POTS can include:
- Lightheadedness and fainting
- Tachycardia (abnormally fast heart rate)
- Chest pains
- Shortness of breath
- Stomach upset
- Easily exhausted by exercise
- Over-sensitivity to temperatures
The disorder has been associated with a range of other conditions and diseases, including:
- Autoimmune diseases.
- Ehlers Danlos Syndrome – a collagen protein disorder than can lead to joint hypermobility and “stretchy” veins.
- Genetic disorders or abnormalities.
- Infections such as Epstein Barr virus, Lyme disease, extra-pulmonary mycoplasma pneumonia and hepatitis C.
- Multiple sclerosis.
- Toxicity from alcoholism, chemotherapy, and heavy metal poisoning.
- Traumas, pregnancy, or surgery.
- The causes of POTS are still not understood, but researchers are investigating a number of avenues. Some scientists believe the condition might be due to a genetic mutation; others think it may be autoimmune (an individual’s immune system attacking its own cells).
Multiple system atrophy
Multiple system atrophy is often mistaken for Parkinson’s in the early stages.
Multiple system atrophy (MSA) is a much rarer condition than POTS and NCS and is slightly more common in males than in females. It is also more likely to occur in persons over the age of 50.
Approximately 25,000-100,000 Americans are estimated to have MSA at any given time. It is often mistaken for Parkinson’s disease because the early symptoms are similar.
In the brains of people with MSA, certain regions slowly break down, namely the cerebellum, basal ganglia, and brainstem.
Little is known about the causes of MSA. In fact, experts know more about what it isn’t than what it is. It is not hereditary, it is not contagious, and it is not related to multiple sclerosis.
At this time, there is no cure for MSA and treatment only manages symptoms and supports patients.
Autonomic dysreflexia (AD) is most often found in people with injuries to their spinal cord. AD normally occurs when something irritates the region below the level of a patient’s injury. For instance an infection or constipation.
The patient’s damaged spine prevents pain messages from reaching the brain. The ANS acts as if confused and reacts inappropriately, producing severe spikes in blood pressure.
Most treatments of AD aim to reduce the initial irritation, which prevents further attacks of AD.
The baroreflex mechanism is one of the body’s many ways of maintaining the right blood pressure.
Baroreceptors are stretch receptors situated in important blood vessels. They detect stretching in the artery walls and send messages to the brainstem.
If these messages fail, blood pressure can be too low when resting or rise dangerously during times of stress or activity. Other symptoms include headaches, excessive sweating, and an abnormal heart rate that does not respond to medication.
Baroreflex failure sometimes occurs after surgery, radiation for cancer, and nerve injury. However, the cause is often not known.
Treatment for baroreflex failure involves medications to control heart rate and blood pressure, as well as interventions to improve stress management.
Diabetic autonomic neuropathy
Diabetic autonomic neuropathy affects an estimated 20 percent of people with diabetes, around 69 million people worldwide. The condition affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels.
Symptoms can include the following:
- Resting tachycardia (fast heart rate)
- Orthostatic hypotension
- Breathing problems
- Gastroparesis (food not passing through the stomach normally)
- Erectile dysfunction
- Sudomotor (sweating) dysfunction
- Impaired neurovascular function
- “Brittle diabetes” (difficult to manage diabetes, usually type I, characterized by frequent episodes of hyperglycemia and hypoglycemia).
Treatment for diabetic autonomic neuropathy focuses on careful management of diabetes. In some cases, antioxidants and aldose reductase inhibitors can reduce symptoms.
Familial dysautonomia is a very rare version of dysautonomia. It only affects a very small group of people of Jewish decent. In all, there are an estimated 350 people in the world with familial dysautonomia.
Symptoms normally arrive at a young age and include:
- Feeding difficulties
- Slow growth
- A lack of tears
- Frequent lung infections
- Difficulty maintaining the right temperature
- Prolonged breath-holding
- Delayed development, including walking and speech
- Poor balance
- Kidney and heart problems
Familial dysautonomia is particularly serious, there is no cure, and it is almost always fatal.
The outlook for patients with dysautonomia depends on the particular diagnostic category. Patients with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest in such patients.
Treatment for Dysautonomia
There is no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, frequent small meals, a high-salt diet, and drugs such as fludrocortisone, midodrine, and ephedrine.