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|Home >> Learn More >> Underlying Causes of Dysautonomia |
Underlying Causes of Dysautonomia
|As you may know, dysautonomia is not a specific medical diagnosis. Dysautonomia is an umbrella term used to describe any malfunction of the autonomic nervous system. There are many underlying diseases and conditions that can lead to dysfunction of the autonomic nervous system. This is not an all inclusive list, so check with your doctor if you believe you might have an underlying cause for your POTS or other form of dysautonomia. Remember that not every dysautonomia patient can find a specific underlying cause, and some of these conditions are very rare.
Amyloidosis is a group of rare disorders caused by the accumulation of harmful protein in various tissues of the body. It can be an inheretied condition or an acquired condition. Symptoms depend on which organs and tissues are impacted. If amyloid proteins are deposited on the heart or the peripheral nerves, it can cause symptoms of dysautonomia.
Amyloidois Overview from Cleveland Clinic
Amyloidosis Overview from Medscape
Familial amyloid polyneuropathies: therapeutic issues.
Amyloidosis Awareness Video
Antiphospholipid syndrome (APS), also known as "Hughes syndrome" for the British rheumatologist who first described the syndrome in 1983, is an autoimmune blood clotting disorder. It is also known as "sticky blood." It may cause clotting of arteries (most commonly causing stroke or heart attack) as well as veins (most commonly causing deep vein thrombosis of the legs and pulmonary embolus of the lungs). It may also cause recurrent miscarriage due to clotting within the placenta. Less well known to physicians is that APS also causes many non-thrombotic manifestations due to "sludging" of the blood. These include a number of neurological manifestations such as headache, memory loss, word finding difficulty, trouble with balance, multiple sclerosis-like syndrome, neuropathy and disorders of the autonomic nervous system (most commonly postural tachycardia syndrome and neurocardiogenic syncope). APS may occur in association with another autoimmune disorder (most commonly lupus, but also Sjogren's syndrome and rheumatoid arthritis); this is known as secondary APS. It may also occur on its own (primary APS). The clotting manifestations are treated with anticoagulation (warfarin or heparin). Less well known is that the non-thrombotic manifestations may also be treated with anti-platelet agents (aspirin or plavix) or anticoagulants with significant improvement or even resolution of the symptoms. APS is diagnosed when there is at least one clinical manifestation and at least one of the following antibodies: anticardiolipin IgG or IgM, beta 2 glycoprotein I IgG or IgM, or the lupus anticoagulant. Research is currently underway to determine if intravenous immunoglobulin (IVIG) may benefit those with autonomic dysfunction caused by APS.
Hughes Syndrome Foundation
Autonomic Dysfunction in Primary APS: A Frequent and Frightening Correlation?
Neurological syndromes in lupus association with APS
Celiac disease ("coeliac" in the United Kingdom, Australia and New Zealand) is a genetic, multisystem autoimmune disease in which the small intestine is the major site of injury. When a person with celiac disease eats gluten [the protein portion in wheat (gliadin), rye (secalin) and barley (hordein), and for some with celiac disease, oats (avenin)], the immune system responds by damaging or destroying the small intestine's villi, which are the structures that enable the intestine to absorb the nutrients needed to survive. From the small intestine, the disease can go on to impact other parts of the body as it progresses. Celiac disease is not rare. The prevalence of celiac disease in the United States is approximately one in every 133, which translates to approximately three million Americans. Of those three million, recent research shows that 83% remain undiagnosed. The average length of time to diagnosis in the U.S. for those experiencing symptoms is four years. This delay in diagnosis increases a person's chance of developing neurological disorders, additional autoimmune diseases, osteoporosis and cancer. By some estimates, neurological disorders are thought to occur in 6-10% of people with celiac disease. Autonomic neuropathy, peripheral neuropathy and ataxia are types of neurological disorders that can appear in people with celiac disease.
Autonomic neuropathy and coeliac disease
Celiac Center at Beth Israel Deaconess, Boston
Celiac Disease Center at Columbia University Medical Center
University of Chicago Celiac Disease Center
Celiac Support Association
Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological disorders. It affects approximately 1 in 2,500 people. CMT includes a group of disorders caused by genetic mutations that impact the normal function of the peripheral nerves (nerves outside the brain and spinal cord). A typical feature of CMT is weakness of the foot and lower leg muscles, often resulting in a foot drop or a high-step gait. CMT can also impact the autonomic nervous system. Although currently no cure or standard treatment for CMT exists, patients find that physical therapy, orthopedic devices and orthopedic surgery can be of benefit.
National Institute of Neurological Disorders and Stroke
Heredity Neuropathy Foundation
Article from Department of Neurology, University of Lille, France
Arnold-Chairi malformation or Chiari is a brain condition present from the time of birth in which the tonsils of the cerebellum herniate at least 5 mm past the foramen magnum or opening of the skull. Some cases of Chiari are "acquired," meaning they developed later in life and were not present at birth. A Chiari malformation can impair the flow of cerebral spinal fluid causing a syringomyelia or fluid build-up in the spinal cord. Chiari can produce a variety of symptoms relating to autonomic and vestibular impairment including dizziness, numbness in the hands or feet, difficulty swallowing, impaired motor coordination, and chronic headaches. Chairi malformation is diagnosed by a brain CT or MRI and a neurological exam.
National Institutes of Neurological Disorders and Stroke - Chiari Malformation Fact Sheet
Sinus arrhythmia and pupil size in Chiari I malformation: evidence of autonomic dysfunction.
No increased herniation of the cerebellar tonsils in a group of patients with orthostatic intolerance
Chiari drop attacks: surgical decompression and the role of tilt table testing.
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is an autoimmune disease that involves inflammation of nerve roots and peripheral nerves (nerves outside the brain and spinal cord), along with corresponding destruction of myelin sheath (the fatty protective covering over the nerves). The loss of myelin can occur in motor or sensory nerves. Some patients also develop autonomic dysfunction, experiencing fluctuations in their blood pressure and cardiac arrhythmias. Treatment for CIDP includes corticosteroids, intravenous immunoglobulin (IVIG) and plasmapheresis (plasma exchange). CIDP is often considered the chronic counterpart of the acute Guillan-Barre Syndrome.
National Institute of Neurological Disorders and Stroke
Johns Hopkins Medicine Neurology and Neurosurgery
GBS/CIDP Foundation International
US National Library of Medicine, National Institutes of Health
Crohn's Disease and Ulcerative Colitis
Crohn's disease is a chronic inflammatory condition of the gastrointestinal tract. Ulcerative colitis is a disease of the large intestine, in which the lining of the large intestine becomes inflamed and develops ulcers that can produce pus and mucous. The combined inflammation and ulceration can cause abdominal discomfort and frequent emptying of the colon. Both Crohn's and Colitis are forms of Inflammatory Bowel Disease (IBD), and both conditions can be associated with autonomic neuropathy and symptoms of autonomic dysfunction. Some studies have documented that about 50% of Crohn's and Colitis patient have autonomic nervous system complications.
Crohn's & Colitis Foundation of America
Mayo Clinic Crohn's disease summary
Disturbed autonomic nerve function in patients with Crohn's disease
Autonomic vagal nerve dysfunction in patients with ulcerative colitis
Deconditioning is a physical change in the way the body functions due to a decrease in activity. Deconditioning can be caused by many different health conditions. One of the most common causes of deconditioning is bed rest, from intentional bed rest after surgery, to unintentional bed rest during an acute viral illness. Due to the debilitating nature of their symptoms, which can make exercise, standing and sometimes even sitting upright difficult, many patients with POTS or other forms of dysautonomia become deconditioned over time. Deconditioning may exacerbate symptoms, so it is important to take steps to prevent deconditioning from occurring, or to reverse it if the patient has already become deconditioned.
University of Chicago - Deconditining Resources
Deconditioning in patients with orthostatic intolerance.
Cardiac Atrophy After Bed-Rest Deconditioning
Effects of short-term and prolonged bed rest on the vestibulosympathetic reflex.
Delta Storage Pool Deficiency
Delta storage pool deficiency occurs when platelets are unable to secrete granules into the blood to promote clotting which can result in severe bleeding. It is diagnosed by microscopic examination of blood cells by a hematologist. Severe blood loss due to storage pool deficiency can result in hypovolemia, which can lead to autonomic dysfunction. Hypovolemia is the medical term for low blood volume.
World Federation of Hemophilia
Platelet Delta Granule and Serotonin Concentrations Are Decreased in Patients with Postural Orthostatic Tachycardia Syndrome
Clinical and laboratory characteristics of adolescents with platelet function disorders and heavy menstrual bleeding
Diabetes and Pre-Diabetes
Diabetes is the most common identifable cause of neuropathy. Approximately 50% of individuals with Type 1 and Type 2 diabetes will develop neuropathy. This can occur in pre-diabetes as well. When only the peripheral small fiber autonomic nerves are impacted, this may present with symptoms similar to POTS. However, approximately 20% of diabetics develop a more serious Cardiac Autonomic Neuropathy, and this is associated with an increased risk of mortality. The likelihood of developing diabetic neuropathy increases with the patient's age and duration of having diabetes. New research indicates that, not only can excessive blood sugar cause autonomic neuropathy, so can too little blood sugar, hypoglycemia, caused by overuse of blood sugar control drugs.
American Diabetes Association
Diabetic Autonomic Neuropathy
National Diabetes Information Clearinghouse
Lifestyle Intervention for Pre-Diabetic Neuropathy
Diabetic cardiac autonomic neuropathy, inflammation and cardiovascular disease
Postural orthostatic tachycardia syndrome (POTS) in a child with type 1 diabetes.
Ehlers-Danlos Syndome (EDS) is a hereditary connective tissue disorder that typically presents with stretchy skin and joint hypermobility, frequent dislocations, and pain. There are some genetic tests but the diagnosis is usually based on a clinical evaluation by a geneticist or rheumatologist. There are many variants of EDS yet the most common variants are hypermobile EDS (formerly type III) and classical EDS (formerly types I and II). EDS, especially the hypermobile type, appears to be common in patients with autonomic dysfunction. Observed vascular abnormalities in patients with EDS may link EDS to orthostatic intolerance. Cranio-cervical instability and Chiari malformation are also seen in patients with EDS and may contribute to autonomic symptoms. Further research is needed to find the etiology of autonomic dysfunction in patients with EDS. It is important to note that not everyone who has EDS develops autonomic dysfunction.
Ehlers-Danlos National Foundation
Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos Syndrome, Classic Type.
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
Dysautonomia in the joint hypermobility syndrome
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndrome
Mast Cell Disorders
Mast cell activation disorders can be divided generally into two categories. Mastocytosis, in which there is an actual problem with the number of mast cells, and Mast Cell Activation Disorder (MCAD), in which the mast cells are normal in quantity, but behave adbnormally. Patients with MCAD usually have episodes of flushing and sometimes rashes followed by autonomic symptoms. It is hypothesized that histamine release from degranulated mast cells triggers can cause excessive vasodilation and trigger a hyperadrenergic response. MCAD can be difficult to diagnose because some patients have symptoms with normal blood and urine tests.
National Institute of Allergy and Infectious Diseases - Mastocytosis Overview
Hyperadrenergic Postural Tachycardia Syndrome in Mast Cell Activation Disorders
Mast cell activation syndrome: a review.
Mast cell proliferative disorders: current view on variants recognized by the World Health Organization.
A Tale of Two Syndromes - POTS and MCAS
Mitochondria are membrane encapsulated structures found in every cell in the human body. They are considered the "power plant" of energy production, but they are also responsible for other important tasks in the body. There are many different forms of mitochondrial disease (sometimes called "mito"), but most mitochondrial diseases present with neurological symptoms including neuromuscular, respiratory, gastrointestinal, and autonomic dysfunction. Mitochondrial diseases are difficult to diagnose and seeing a specialist is key as the process usually involves a combination of clinical evaluation, blood tests, brain imaging, and muscle biopsies.
United Mitochondrial Disease Foundation
Mitochondrial Disorders Overview
Autonomic dysfunction presenting as orthostatic intolerance in patients suffering from mitochondrial cytopathy.
Sometimes when there is a tumor in the body, whether it is cancerous or not, the body tries to get rid of the tumor by producing antibodies meant to attack and remove the tumor. Unfortunately, sometimes these antibodies can also attack part of the nervous system. When this occurs, it is referred to as Paraneoplastic Syndrome. The antibodies involved are called paraneoplastic antibodies. This is considered quite rare, however, some studies have shown that up to 1% of patients with solid tumors may have paraneoplastic antibodies. If paraneopastic antibodies attack the autonomic nervous system, the patient can develop symptoms of dysautonomia. Frequently, the neurological symptoms present before the cancer is diagnosed. In some cases, the paraneoplastic syndrome improves once the tumor is removed. In other cases, intravenous immunoglobulin or other immune modulating treatments are used to try to reduce the harmful antibody levels.
Medscape: Paraneoplastic Autonomic Neuropathy
Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force
Paraneoplastic neuropathy: wide-ranging clinicopathological manifestations.
Sarcoidosis is an inflammatory disorder in which the body's immune system causes too much inflammation and then the build up of immune cells in organs such as the lungs, eyes and liver. Sarcoidosis can also impact the nervous system, and in some cases this can result in symptoms of dysautonomia. Approximately 60-70% of sarcoidosis patients go into remission without treatment, but in rare cases, such as that of American comedian Bernie Mac, sarcoidosis can be fatal.
The Bernie Mac Foundation
National Heart Lung & Blood Institute - What is Sarcoidosis?
Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy
Association of small fiber neuropathy with cardiac sympathetic dysfunction in sarcoidosis.
Sjogren's Syndrome is one of the most common autoimmune disease in the United States, and possibly worldwide. One million people in the U.S. are living with Sjogren's. Experts believe there may be another three million people in the U.S. who have Sjogren's, but remain undiagnosed. Due to a lack of awareness within the medical profession and the complex and diverse symptoms Sjogren's can present with, the average patient can take five years to get diagnosed. Typical symptoms can include dry eyes, dry mouth, fatigue and joint pain. However, Sjogren's can attack any tissue or organ in the body, and not every patient has the classic dryness symptoms. Sjogren's can initially present as POTS. There is some evidence that younger patients, or those earlier in the disease process, may present initially with neurological symptoms and may be less likely to have the traditional symptoms of dryness. In the past, autonomic neuroapthy has been considered to be a rare manifestation of Sjogren's, but newer recent research indicates that approximately half of all Sjogren's patients experiences symptoms of autonomic dysfunction. Many physicians rely only on blood tests (SS-A, SS-B and ANA) to rule out Sjogren's as a possible diagnosis. However, about 50% of Sjogren's patients with neurological manifestations do not test positive for any of the antibody tests. A minor salivary gland lip biopsy is currently considered the gold standard test to diagnose or rule out Sjogren's. The diagnostic criteria for Sjogren's continues to be hotly debated by experts. The American-European Consensus Criteria for Sjogren's Syndrome is the most widely accepted diagnostic criteria at this time. Approximately 50% of Sjogren's patients have "primary" Sjogren's, meaning just Sjogren's and no other autoimmune disease, and the other 50% have Secondary Sjogren's. Secondary Sjogren's is Sjogren's in association with another autoimmune disease, most commonly Lupus, Rheumatoid Arthritis or Hashimotos Thyroiditis. In some cases, the immune system becomes so overactive that Sjogren's patients can develop three or more autoimmune conditions at once.
Sjogren's Syndrome Foundation
Sjogren's Syndrome Foundation Local Support Group Leaders - US & International - Since it's very hard to find doctors that have significant expertise in diagnosing Sjogren's, you can call the support group leaders and ask who the best local doctors are to diagnose and treat Sjogren's.
A Primer on the Neurological Complications of Sjogren's
Primary Sjogrens syndrome is associated with impaired autonomic response to orthostasis and sympathetic failure.
Alcoholism, chemotherapy drugs and heavy metal poisoning can cause damage to the autonomic nerves due to the toxicity of these substances. In addition to the toxicity of alcohol, chronic alcohol consumptions can also lead to nutritional deficiencies that contribute to autonomic nerve damage. "Heavy" metal poisoning doesn't just include heavy metals, it can include any metal on the periodic table that is potentially harmful to human health. Some metals have no know benefit or need in human health such as lead, mercury and cadmium. Other metals such as iron and copper are essential for human health, but can be toxic at higher doses.
Alcohol-related peripheral neuropathy: nutritional, toxic, or both?
Associations between autonomic dysfunction and pain in chemotherapy-induced polyneuropathy.
Peripheral neuropathy in chronic occupational inorganic lead exposure: a clinical and electrophysiological study
Physical Trauma, Surgery and Pregnancy
While physical traumas, surgeries and pregnancy might not seem to have much in common at first, all three can cause a rapid and significant change in structure and function of the body. The onset of autonomic dysfunction, particularly POTS, has been well documented after car accidents, serious injuries, surgeries and pregnancies.
Autonomic dysfunction presenting as postural tachycardia syndrome following traumatic brain injury.
Postural tachycardia syndrome - current experience and concepts
The Neurological Complications of Nutritional Deficiency following Bariatric Surgery
New-onset orthostatic intolerance following bariatric surgery.
Vitamins are organic substances made by plants or animals that are required for human health. Many of these vitamins, including Vitamins E, B1 (thiamine), B3 (niacin) B6 (pyridoxine), and B12 are essential to healthy nerve function. Thiamine deficiency, in particular, is common among people with alcoholism. People who have digestive problems, which are very common in people who have autonomic disorders, are often deficient in B12. Vitamin deficiencies can usually be corrected with a proper diet, and if that is not sufficient, supplementation with oral, intravenous, or injectable vitamins may be necessary.
University of Chicago Peripheral Neuropathy Center - Vitamin B12 Deficiency
Natural History and Prevalence of Vitamin B12 Deficiency
USDA Food Sources of Selected Nutrients
Remember, this is not a complete list of things that can cause dysautonomia. If you have questions about the other causes of dysautonomia, it's best to speak with your doctor. If you need help finding a doctor with expertise in autonomic disorders, you can look for one on our Interactive Global Dysautonomia Map.