Dysautonomia
| Dysautonomia | |
|---|---|
| Specialty | Neurology  |
Dysautonomia (or autonomic dysfunction) is a broad term that describes any disease or malfunction of the autonomic nervous system. This includes postural orthostatic tachycardia syndrome (POTS), inappropriate sinus tachycardia (IST), vasovagal syncope, pure autonomic failure, neurocardiogenic syncope (NCS), neurally mediated hypotension (NMH), orthostatic hypotension, orthostatic hypertension, autonomic instability and a number of lesser-known disorders such as cerebral salt-wasting syndrome. Dysautonomia is associated with multiple system atrophy (Shy-Drager syndrome), Ehlers-Danlos syndrome (EDS), and Marfan syndrome for reasons that are not fully understood.
Presentation
Symptoms of dysautonomia are numerous and vary widely from person to person. Since dysautonomia is a full-body condition, a large number of symptoms may be present that can greatly alter a person's quality of life. Each patient with dysautonomia is different—some are affected only mildly, while others are left completely bed-ridden and disabled.
The primary symptoms present in patients with dysautonomia are:
- Excessive fatigue
- Excessive thirst (polydipsia)
- Lightheadedness, dizziness or vertigo
- Feelings of anxiety or panic (not mentally induced [citation needed])
- Rapid heart rate or slow heart rate
- Orthostatic hypotension, sometimes resulting in syncope[1] (fainting)
Other symptoms frequently associated with dysautonomia include: Gastroparesis (delayed gastric emptying), headaches, pallor, malaise, facial flushing, salt cravings, mydriasis (abnormal dilation of the pupils), constipation, diarrhea, nausea, acid reflux, visual disturbances, orthostatic hypotension, numbness, nerve pain, trouble breathing, chest pains, in some cases loss of consciousness and seizures.[1] Dysautonomia can also present with orthostatic hypertension.[2] A full list of symptoms may be found at the Dysautonomia Information Network.[3]
Causes
Causes of dysautonomias are not fully understood, but they are thought to include:[citation needed]
- Autoimmune disorders[citation needed]
- Lyme disease[4]
- Diabetes mellitus
- Brain injury[5]
- Degenerative neurological diseases such as Parkinson's disease[citation needed]
- Genetic factors[citation needed]
- Hereditary connective tissue diseases, especially Ehlers-Danlos Syndrome. In a study on orthostatic intolerance and EDS, it is suggested that the co-occurrence of these syndromes can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences.[6]
- Physical trauma or injury which damages the autonomic nervous system, as with Cerebral salt-wasting syndrome.[5]
- Mitochondrial diseases[citation needed]
- Spinal cord injury (autonomic dysreflexia)[7]
- Hereditary forms, often together with a sensory neuropathy (hereditary sensory and autonomic neuropathy, five types)[8]
Management
In some cases, a cardiac ablation procedure can be performed to stop the heart symptoms completely. It is not recommended in POTS patients, and can in fact worsen tachycardia.[9] Medications are also used to stabilize the condition on a long-term basis. Benzodiazepines can be used for some of the physical problems such as anxiety. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic intolerance include elevation of the head of the bed, frequent small meals, a high-salt diet, fluid intake, and compression stockings. Drugs such as fludrocortisone, midodrine, ephedrine and SSRIs can also be used to treat symptoms. Treating dysautonomia can be difficult and usually requires a combination of drug therapies.
Prognosis
The outlook for patients with dysautonomia depends on the particular diagnostic category. Some forms of dysautonomia resolve over time and are not life threatening, even if life-changing in the form of minor to major limitations in activities of daily living. 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. [10]
History
In the nineteenth and earlier twentieth centuries, a diagnosis that was almost solely given to women was "neurasthenia," or a "weak nervous system." (During World War I, doctors began to apply it to men exhibiting symptoms of what is now called post-traumatic stress disorder.) Women would present with symptoms of fatigue, weakness, dizziness and fainting, and the doctor's orders would simply be bed rest. Some of these women died, while many others recovered. No one understood where the problems came from.
With advances in modern medicine, diagnostic criteria and treatment for various forms of dysautonomia have sharpened. Doctors and researchers are including males in their subject population for this disorder.
The prototype of dysautonomia is the ancient scourge of beriberi, a nutritional deficiency disease due to excess of simple carbohydrate and concomitant vitamin B1 deficiency. In the early stages, this results in loss of functional efficiency in the central control mechanisms of the autonomic nervous system. If the nutritional deficiency continues, there is gradual degeneration of the system. Other vitamin deficiencies have been implicated in causing dysautonomia and, unlike the genetically determined forms of the disease, they are treatable.[11]
See also
- Dopamine beta hydroxylase deficiency
- Familial dysautonomia
- Postural orthostatic tachycardia syndrome
References
- ^ a b Tierney, Lawrence M.; McPhee, Stephen J.; Papadakis, Maxine A. (2006). Current Medical Diagnosis and Treatment 2007 (Current Medical Diagnosis and Treatment). McGraw-Hill Professional. p. 1010. ISBN 0-07-147247-9.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ http://www.medscape.com/viewarticle/543590_4
- ^ Dinet.org
- ^ Lymeinfo.net
- ^ a b Baguley IJ, Heriseanu RE, Cameron ID, Nott MT, Slewa-Younan S (2008). "A critical review of the pathophysiology of dysautonomia following traumatic brain injury". Neurocrit Care. 8 (2): 293–300. doi:10.1007/s12028-007-9021-3. PMID 17968518.
{{cite journal}}:|access-date=requires|url=(help)CS1 maint: multiple names: authors list (link) Cite error: The named reference "pmid17968518" was defined multiple times with different content (see the help page). - ^ J Pediatr. 1999 Oct;135(4):494-9. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT.
- ^ Alexander MS, Biering-Sorensen F, Bodner D; et al. (2009). "International standards to document remaining autonomic function after spinal cord injury". Spinal Cord. 47 (1): 36–43. doi:10.1038/sc.2008.121. PMID 18957962.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Axelrod FB (2002). "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clin Auton Res. 12. Suppl 1 (7): I2–14. doi:10.1007/s102860200014. PMID 12102459.
- ^ HRSpatients.org
- ^ "Dysautonomia". NINDS. Retrieved 2012-04-03.
- ^ Lonsdale D., "Dysautonomia, a heuristic approach to a revised model for etiology of disease", eCAM 2009, 6:3-10.
External links
- Dysautonomia at Curlie
- dysautonomia at NINDS
- Dysautonomia Youth Network of America, Inc.
- ndrf.org
- 12 More Pages-Live & Cope with Dysautonomia
- Dysautonomia Information Network
- Handbook for Patients with Dysautonomia, by Dr. David S. Goldstein, MD, PhD and Linda J. Smith - Free chapter by chapter PDF download