National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pure autonomic failure


Other Names:
Bradbury Eggleston syndrome; Bradbury-Eggleston syndrome; Orthostatic hypotension (a symptom); Bradbury Eggleston syndrome; Bradbury-Eggleston syndrome; Orthostatic hypotension (a symptom); Idiopathic orthostatic hypotension (a symptom) See More
Categories:
This disease is grouped under:
Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates involuntary body processes such as blood pressure and breathing rate. PAF affects only the peripheral autonomic nervous system, which means it does not involve the brain and spinal cord (the central nervous system).[1] It usually begins in midlife, although it can begin earlier.[1][2] The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing.[1] This causes a person to feel dizzy and lightheaded, requiring them to sit or lie down to prevent fainting.[1][3] People with PAF also have an abnormal blood pressure response to other common daily activities or exposures, as well as additional symptoms affecting various body systems.[1][4]

The reason that PAF develops is not known.[1] It is not known to be inherited.[4] The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves.[1] The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension.[1] Diagnosing PAF may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test.[1] Treatment options do not stop disease progression but help to control symptoms.[4] Options may include avoiding triggers of symptoms, increasing fluid and salt intake, using compressive garments, and/or various medications.[1] PAF usually has a slowly progressive course and may result in a person being restricted to a reclined position in their home.[1]
Last updated: 4/2/2019
The primary symptom of pure autonomic failure (PAF) is orthostatic hypotension, which is a sudden drop in blood pressure that occurs when a person stands up.[1] This causes a person to feel dizzy and lightheaded, and causes the need to sit, squat, or lie down in order to prevent fainting.[1][2] Interestingly, when people with PAF lie down with their face upward, they often have blood pressure readings consistent with high blood pressure (hypertension).[1] People with PAF also have dramatic changes in blood pressure in response to common activities such as eating, drinking, or exercising, as well as to exposure to heat or certain medications.[1] For example, blood pressure drops after eating (especially carbohydrate-rich foods) and exercising.[1] However, drinking fluids causes blood pressure to rise.[1] The symptoms of PAF are typically worse in the morning and in hot weather.[1]

Other symptoms of PAF may include an inability or decreased ability to sweat; dry mouth; diarrhea or constipation; neck pain that is often relieved when lying down; changes in urinary habits; impaired sense of smell; and sexual dysfunction (such as erectile dysfunction in men).[1][2][4] In general, PAF does not cause cognitive impairment. However, some people with PAF may have deficits of attention or executive functioning.[4]
Last updated: 4/2/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of circulating catecholamine level 0012099
Anhidrosis
Lack of sweating
Sweating dysfunction
[ more ] 		0000970
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
30%-79% of people have these symptoms
Constipation 0002019
Dysuria
Painful or difficult urination
0100518
Syncope
Fainting spell
0001279
Urinary incontinence
Loss of bladder control
0000020
5%-29% of people have these symptoms
Impotence
Difficulty getting a full erection
Difficulty getting an erection
[ more ] 		0000802
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Last updated: 7/1/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Droxidopa (Brand name: Northera) - Manufactured by Chelsea Therapeutics, Inc.
    FDA-approved indication: February 2014, Droxidopa (Northera) was approved for the treatment of orthostatic dizziness, lightheadedness, or the "feeling that you are about to black out" in adult patients with symptomatic neurogenic orthostatic hypotension caused by primary autonomic failure (Parkinson's disease, multiple system atrophy, and pure autonomic failure), dopamine beta-hydroxylase deficiency, and non-diabetic autonomic neuropathy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include iatrogenic (including cardiovascular, urologic and psychotropic drugs) or curable (dehydration, venous insufficiency, anemia) causes of orthostatic hypotension, dopamine beta-hydroxylase deficiency (see this term), which is ruled out by the presence of plasma noradrenaline in patients affected by orthostatic hypotension that is considered idiopathic, primary or secondary peripheral polyneuropathy (including diabetes, amyloidosis, renal dysfunction, Guillain-Barré syndrome (see these terms), those due to deficiency or paraneoplasic syndrome) or neurodegenerative disease dysautonomias (multiple system atrophy, Parkinson's disease; see these terms), which are ruled out by normal neurological and paraclinical examinations in patients affected by PAF. The progression of PAF is slow, which distinguishes it from acute or sub-acute pandysautonomias.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Pure autonomic failure. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about autonomic nervous system disorders in general. Click on the link to view this information.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pure autonomic failure. Click on the link to view a sample search on this topic.

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  1. Brown TP. Pure autonomic failure. Pract Neurol. October, 2017; 17(5):341-348. https://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pubmed/28717053.
  2. Summary of Pure Autonomic Failure. Dysautonomia International. 2012; http://www.dysautonomiainternational.org/page.php?ID=32.
  3. Orthostatic Hypotension Information Page. National Institute of Neurologic Disorders and Stroke (NINDS). June 20, 2018; https://www.ninds.nih.gov/Disorders/All-Disorders/Orthostatic-Hypotension-Information-Page.
  4. Thaisetthawatkul P. Pure Autonomic Failure. Curr Neurol Neurosci Rep. August, 2016; 16(8):74. https://www.ncbi.nlm.nih.gov/pubmed/27338613.