Pure autonomic failure

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Pure autonomic failure
Other namesBradbury-Eggleston syndrome, idiopathic orthostatic hypotension. [1]
The Autonomic Nervous System.jpg
Function of the autonomic nervous system.
Specialty Neurology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Orthostatic hypotension and other autonomic symptoms. [2]
Diagnostic method Clinical evaluation. [2]
TreatmentSymptomatic treatment. [2]

Pure autonomic failure (PAF) is an uncommon, sporadic neurodegenerative condition marked by a steadily declining autonomic regulation. [3] Bradbury and Eggleston originally described pure autonomic failure in 1925. [4]

Contents

Patients usually present with orthostatic hypotension or syncope in midlife or later. In addition, genitourinary, thermoregulatory, and bowel dysfunction can be signs of autonomic failure. [5]

Pure autonomic failure originates from peripheral autonomic nervous system lesions. [6]

The diagnosis of pure autonomic failure relies on the absence of other neurologic abnormalities, specifically Parkinsonism, cognitive impairment, cerebellar ataxia, or tremors, and on compatible clinical features of subtle, progressive pan autonomic failure, most notably orthostatic hypotension. [7]

Signs and symptoms

The majority of symptoms that patients with PAF exhibit are associated with neurogenic orthostatic hypotension, or orthostatic hypotension brought on by severe sympathetic failure. Within three minutes of standing up straight, orthostatic hypotension is defined as a drop in systolic blood pressure of at least 20 mm Hg or a drop in diastolic blood pressure of 10 mm Hg. [7]

About half of PAF patients also have concurrent supine hypertension, even though all PAF patients by definition have orthostatic hypotension. [8]

For some PAF patients, genitourinary dysfunction may be the first or presenting symptom. Urgency and frequency are the most common bladder symptoms in PAF, but more severe dysfunction including urinary retention and incontinence can also occur. [5]

Over half of PAF patients report having constipation, [9] which is frequently an early sign of the illness. [10]

About half of all PAF patients report abnormal sweating, which can manifest as either excessive or decreased sweating, with the latter being the result of compensatory hyperhidrosis. [11]

Pathology

The pathology of pure autonomic failure is not yet completely understood. However, a loss of cells in the intermediolateral column of the spinal cord has been documented, as has a loss of catecholamine uptake and catecholamine fluorescence in sympathetic postganglionic neurons. In general, levels of catecholamines in these patients are very low while lying down, and do not increase much upon standing.

Treatment

Pharmacological methods of treatment include fludrocortisone, midodrine, somatostatin, erythropoietin, and other vasopressor agents. However, often a patient with pure autonomic failure can mitigate his or her symptoms with far less costly means. Compressing the legs and lower body, through crossing the legs, squatting, or the use of compression stockings can help. Use of an abdominal binder is even more effective. Also, ingesting more water than usual can increase blood pressure and relieve some symptoms.[ citation needed ]

History

In 1925, Bradbury and Eggleston first characterized three patients seemingly with a common syndrome, with what they described as "the occurrence of syncopal attacks after or during exertion or even after standing erect for some minutes. Other features in the three patients are a slow, unchanging pulse rate, incapacity to perspire, a lowered basal metabolism and signs of slight and indefinite changes in the nervous system. Each of these patients felt much worse during the heat of summer." [12] [13] Further research identified multiple causes for these syndromic findings, now grouped as primary autonomic disorders (also called primary dysautonomia), including Pure Autonomic Failure, Multiple System Atrophy, and Parkinson's. The primary differentiating characteristic of Pure autonomic failure is decreased circulation and synthesis of norepinephrine, and dysfunction localized peripherally. It is relevant to note that progression to central nervous system neurodegeneration can also occur. [13]

Eponym

It is also known as Bradbury-Eggleston syndrome, named after Samuel Bradbury and Cary Eggleston who first described it in 1925. [14] [12] [15]

Related Research Articles

Orthostatic hypotension, also known as postural hypotension, is a medical condition wherein a person's blood pressure drops when standing up or sitting down. Primary orthostatic hypotension is also often referred to as neurogenic orthostatic hypotension. The drop in blood pressure may be sudden, within 3 minutes or gradual. It is defined as a fall in systolic blood pressure of at least 20 mmHg or diastolic blood pressure of at least 10 mmHg after 3 minutes of standing. It occurs predominantly by delayed constriction of the lower body blood vessels, which is normally required to maintain adequate blood pressure when changing the position to standing. As a result, blood pools in the blood vessels of the legs for a longer period, and less is returned to the heart, thereby leading to a reduced cardiac output and inadequate blood flow to the brain.

<span class="mw-page-title-main">Autonomic neuropathy</span> Medical condition

Autonomic neuropathy is a form of polyneuropathy that affects the non-voluntary, non-sensory nervous system, affecting mostly the internal organs such as the bladder muscles, the cardiovascular system, the digestive tract, and the genital organs. These nerves are not under a person's conscious control and function automatically. Autonomic nerve fibers form large collections in the thorax, abdomen, and pelvis outside the spinal cord. They have connections with the spinal cord and ultimately the brain, however. Most commonly autonomic neuropathy is seen in persons with long-standing diabetes mellitus type 1 and 2. In most—but not all—cases, autonomic neuropathy occurs alongside other forms of neuropathy, such as sensory neuropathy.

<span class="mw-page-title-main">Dysautonomia</span> Any disease or malfunction of the autonomic nervous system

Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome.

<span class="mw-page-title-main">Adrenal medulla</span> Central part of the adrenal gland

The adrenal medulla is the inner part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of chromaffin cells that secrete catecholamines, including epinephrine (adrenaline), norepinephrine (noradrenaline), and a small amount of dopamine, in response to stimulation by sympathetic preganglionic neurons.

<span class="mw-page-title-main">Hypotension</span> Abnormally low blood pressure

Hypotension, also known as low blood pressure, is a cardiovascular condition characterized by abnormally reduced blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood and is indicated by two numbers, the systolic blood pressure and the diastolic blood pressure, which are the maximum and minimum blood pressures within the cardiac cycle, respectively. A systolic blood pressure of less than 90 millimeters of mercury (mmHg) or diastolic of less than 60 mmHg is generally considered to be hypotension. Different numbers apply to children. However, in practice, blood pressure is considered too low only if noticeable symptoms are present.

<span class="mw-page-title-main">Multiple system atrophy</span> Neurodegenerative disorder

Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by tremors, slow movement, muscle rigidity, and postural instability, autonomic dysfunction and ataxia. This is caused by progressive degeneration of neurons in several parts of the brain including the basal ganglia, inferior olivary nucleus, and cerebellum.

<span class="mw-page-title-main">Familial dysautonomia</span> Medical condition

Familial dysautonomia (FD), also known as Riley-Day syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.

Orthostatic intolerance (OI) is the development of symptoms when standing upright that are relieved when reclining. There are many types of orthostatic intolerance. OI can be a subcategory of dysautonomia, a disorder of the autonomic nervous system occurring when an individual stands up. Some animal species with orthostatic hypotension have evolved to cope with orthostatic disturbances.

<span class="mw-page-title-main">Postural orthostatic tachycardia syndrome</span> Abnormally high heart rate when standing

Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by an abnormally large increase in heart rate upon sitting up or standing. POTS is a disorder of the autonomic nervous system that can lead the individual to experience a variety of symptoms. Symptoms may include lightheadedness, brain fog, blurred vision, weakness, fatigue, headaches, heart palpitations, exercise intolerance, nausea, diminished concentration, tremulousness (shaking), syncope (fainting), coldness or pain in the extremities, numbness or tingling in the extremities, chest pain, and shortness of breath. Other conditions associated with POTS include migraine headaches, Ehlers–Danlos syndrome, asthma, autoimmune disease, vasovagal syncope and mast cell activation syndrome. POTS symptoms may be treated with lifestyle changes such as increasing fluid, electrolyte, and salt intake, wearing compression stockings, gentler and slow postural changes, avoiding prolonged bedrest, medication, and physical therapy.

Alpha-1 blockers constitute a variety of drugs that block the effect of catecholamines on alpha-1-adrenergic receptors. They are mainly used to treat benign prostatic hyperplasia (BPH), hypertension and post-traumatic stress disorder. Alpha-1 adrenergic receptors are present in vascular smooth muscle, the central nervous system, and other tissues. When alpha blockers bind to these receptors in vascular smooth muscle, they cause vasodilation.

Autonomic dysreflexia (AD) is a potentially fatal medical emergency classically characterized by uncontrolled hypertension and cardiac arrhythmia. AD occurs most often in individuals with spinal cord injuries with lesions at or above the T6 spinal cord level, although it has been reported in patients with lesions as low as T10. Guillain–Barré syndrome may also cause autonomic dysreflexia.

<span class="mw-page-title-main">Droxidopa</span> Synthetic amino acid/norepinephrine prodrug

Droxidopa is a synthetic amino acid precursor which acts as a prodrug to the neurotransmitter norepinephrine (noradrenaline). Unlike norepinephrine, droxidopa is capable of crossing the protective blood–brain barrier (BBB).

<span class="mw-page-title-main">Alpha blocker</span> Class of pharmacological agents

Alpha-blockers, also known as α-blockers or α-adrenoreceptor antagonists, are a class of pharmacological agents that act as antagonists on α-adrenergic receptors (α-adrenoceptors).

<span class="mw-page-title-main">Syncope (medicine)</span> Transient loss of consciousness and postural tone

Syncope, commonly known as fainting or passing out, is a loss of consciousness and muscle strength characterized by a fast onset, short duration, and spontaneous recovery. It is caused by a decrease in blood flow to the brain, typically from low blood pressure. There are sometimes symptoms before the loss of consciousness such as lightheadedness, sweating, pale skin, blurred vision, nausea, vomiting, or feeling warm. Syncope may also be associated with a short episode of muscle twitching. Psychiatric causes can also be determined when a patient experiences fear, anxiety, or panic; particularly before a stressful event, usually medical in nature. When consciousness and muscle strength are not completely lost, it is called presyncope. It is recommended that presyncope be treated the same as syncope.

<span class="mw-page-title-main">Dopamine beta hydroxylase deficiency</span> Medical condition

Dopamine beta (β)-hydroxylase deficiency is a human medical condition involving inadequate dopamine beta-hydroxylase. It is characterized by increased amounts of serum dopamine and the absence of norepinephrine (NE) and epinephrine.

Orthostatic syncope refers to syncope resulting from a postural decrease in blood pressure, termed orthostatic hypotension.

<span class="mw-page-title-main">Orthostatic hypertension</span> Medical condition

Orthostatic hypertension is a medical condition consisting of a sudden and abrupt increase in blood pressure (BP) when a person stands up. Orthostatic hypertension is diagnosed by a rise in systolic BP of 20 mmHg or more when standing. Orthostatic diastolic hypertension is a condition in which the diastolic BP raises to 98 mmHg or over in response to standing, but this definition currently lacks clear medical consensus, so is subject to change. Orthostatic hypertension involving the systolic BP is known as systolic orthostatic hypertension.

<span class="mw-page-title-main">Autoimmune autonomic ganglionopathy</span> Medical condition

Autoimmune autonomic ganglionopathy is a type of immune-mediated autonomic failure that is associated with antibodies against the ganglionic nicotinic acetylcholine receptor present in sympathetic, parasympathetic, and enteric ganglia. Typical symptoms include gastrointestinal dysmotility, orthostatic hypotension, and tonic pupils. Many cases have a sudden onset, but others worsen over time, resembling degenerative forms of autonomic dysfunction. For milder cases, supportive treatment is used to manage symptoms. Plasma exchange, intravenous immunoglobulin, corticosteroids, or immunosuppression have been used successfully to treat more severe cases.

<span class="mw-page-title-main">Adrenergic receptor autoantibodies</span>

Adrenergic receptor autoantibodies

Supine hypertension is a paradoxical elevation in blood pressure upon assuming a supine position from a standing or sitting position. It is assumed to be a manifestation of disorders of the autonomic nervous system or due to side effects of medications such as midodrine and droxidopa.

References

  1. ↑ "Monarch Initiative". Monarch Initiative. Retrieved February 2, 2024.
  2. 1 2 3 Coon, Elizabeth (July 3, 2023). "Pure Autonomic Failure". Merck Manuals Professional Edition. Retrieved February 2, 2024.
  3. ↑ Kabir, M. Ashish; Chelimsky, Thomas C. (2019). "Pure autonomic failure". Handbook of Clinical Neurology. Vol. 161. Elsevier. pp. 413–422. doi:10.1016/b978-0-444-64142-7.00064-3. ISBN   978-0-444-64142-7. ISSN   0072-9752.
  4. ↑ Bradbury, Samuel; Eggleston, Cary (1925). "Postural hypotension". American Heart Journal. 1 (1). Elsevier BV: 73–86. doi:10.1016/s0002-8703(25)90007-5. ISSN   0002-8703.
  5. 1 2 Coon, Elizabeth A.; Singer, Wolfgang; Low, Phillip A. (2019). "Pure Autonomic Failure". Mayo Clinic Proceedings. 94 (10). Elsevier BV: 2087–2098. doi:10.1016/j.mayocp.2019.03.009. ISSN   0025-6196. PMC   6826339 . PMID   31515103.
  6. ↑ Garland, Emily M.; Hooper, William B.; Robertson, David (2013). "Pure autonomic failure". Autonomic Nervous System. Handbook of Clinical Neurology. Vol. 117. Elsevier. pp. 243–257. doi:10.1016/b978-0-444-53491-0.00020-1. ISBN   978-0-444-53491-0. ISSN   0072-9752. PMID   24095130.
  7. 1 2 Thaisetthawatkul, Pariwat (2016). "Pure Autonomic Failure". Current Neurology and Neuroscience Reports. 16 (8): 74. doi:10.1007/s11910-016-0673-2. ISSN   1528-4042. PMID   27338613.
  8. ↑ Shannon, John; Jordan, Jens; Costa, Fernando; Robertson, Rose Marie; Biaggioni, Italo (1997). "The Hypertension of Autonomic Failure and Its Treatment". Hypertension. 30 (5). Ovid Technologies (Wolters Kluwer Health): 1062–1067. doi:10.1161/01.hyp.30.5.1062. ISSN   0194-911X. PMID   9369256.
  9. ↑ Kaufmann, Horacio; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Biaggioni, Italo; Low, Phillip A.; Singer, Wolfgang; Goldstein, David S.; Peltier, Amanda C.; Shibao, Cyndia A.; Gibbons, Christopher H.; Freeman, Roy; Robertson, David (2017). "Natural history of pure autonomic failure: A <scp>U</scp>nited <scp>S</scp>tates prospective cohort". Annals of Neurology. 81 (2). Wiley: 287–297. doi:10.1002/ana.24877. ISSN   0364-5134. PMC   5323269 . PMID   28093795.
  10. ↑ Mabuchi, N (July 1, 2005). "Progression and prognosis in pure autonomic failure (PAF): comparison with multiple system atrophy". Journal of Neurology, Neurosurgery & Psychiatry. 76 (7). BMJ: 947–952. doi:10.1136/jnnp.2004.049023. ISSN   0022-3050. PMC   1739727 . PMID   15965200.
  11. ↑ BANNISTER, ROGER; ARDILL, LESLIE; FENTEM, PETER (1967). "Defective Autonomic Control of Blood Vessels in Idiopathic Orthostatic Hypotension". Brain. 90 (4). Oxford University Press (OUP): 725–746. doi:10.1093/brain/90.4.725. ISSN   0006-8950. PMID   6075807.
  12. 1 2 S. Bradbury, C. Eggleston. Postural hypotension: A report of three cases. American Heart Journal, St. Louis, 1925, 1: 73-86.
  13. 1 2 Garland, Emily M.; Hooper, William B.; Robertson, David (2013-01-01). Swaab, Ruud M. Buijs and Dick F. (ed.). Chapter 20 - Pure autonomic failure. Autonomic Nervous System. Vol. 117. Elsevier. pp. 243–257. doi:10.1016/b978-0-444-53491-0.00020-1. ISBN   9780444534910. PMID   24095130.{{cite book}}: |journal= ignored (help)
  14. ↑ "Critical review of pure autonomic failure raises awareness for early signs of Parkinson's disease, Lewy body dementia, and Multiple System Atrophy". ean.org. 6 February 2019. Retrieved 2020-09-09.
  15. ↑ synd/2102 at Who Named It?
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