Pure autonomic failure

Title

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:

Nervous System Diseases; RDCRN

This disease is grouped under:

Primary orthostatic hypotension

Summary Summary

Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy.

The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test. Treatment is focused on managing the symptoms. Options include both lifestyle changes and medications.^[1]^[2]^[3]^[4]^[5]

Last updated: 2/19/2021

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with pure autonomic failure (PAF). These features may be different from person to person. Some people may have more symptoms than others, and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of pure autonomic failure may include:

A sudden drop in blood pressure when a person stands up (orthostatic hypotension)
Lightheadedness, dizziness, blurry vision
Fatigue
Palpitations, anxiety
High blood pressure when lying down (supine hypertension)
Abnormal sweating

Other symptoms of PAF may include dry mouth, diarrhea or constipation, neck pain, changes in urinary habits, impaired sense of smell, and erectile dysfunction in men. Symptoms begin in middle age and slowly get worse over time. Sometimes PAF leads to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy.^[3]^[4]^[5]

Last updated: 2/19/2021

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

Showing of 8 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

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.

Midodrine HCl (Brand name: Amatine) - Manufactured by Takeda Development Center
FDA-approved indication: Treatment of patients with symptomatic orthostatic hypotension
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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 Related Diseases

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.

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 Research

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.
The Autonomic Rare Diseases Clinical Research Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with many types of autonomic disorders through research.

Organizations Organizations

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

Dysautonomia Information Network
PO Box 10057
Swanzey, NH 03446, NH 03446
E-mail: webmaster@dinet.org
Website: https://www.dinet.org/
Dysautonomia International
P.O. Box 596
East Moriches, NY 11940
E-mail: info@DysautonomiaInternational.org
Website: http://www.dysautonomiainternational.org/
Dysautonomia Support Network
140 Pittman Street, Unit 106
Providence, RI 02906
Telephone: 401-830-4480
Website: https://www.dysautonomiasupport.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

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.
Thaisetthawatkul P. Pure Autonomic Failure. Curr Neurol Neurosci Rep. August, 2016; 16(8):74. https://www.ncbi.nlm.nih.gov/pubmed/27338613.
Coon EA, Singer W, Low PA. Pure Autonomic Failure. Mayo Clin Proc. Oct 2019; 94(10):2087-2098. https://pubmed.ncbi.nlm.nih.gov/31515103/.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA, Biaggioni I, Low PA, Singer W, at al. Autonomic Disorders Consortim. Natural history of pure autonomic failure: A United States prospective cohort.. Ann Neurol. Feb 2017; 81(2):287-297. https://pubmed.ncbi.nlm.nih.gov/28093795/.
Kabir MA, Chelimsky TC. Pure autonomic failure. Handb Clin Neurol. 2019; 161:413-422. https://pubmed.ncbi.nlm.nih.gov/31307617/.