Rare Nephrology News
Disease Profile
Pure autonomic failure
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Adult
ICD-10
G90.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Bradbury Eggleston syndrome; Bradbury-Eggleston syndrome; Orthostatic hypotension (a symptom);
Categories
Nervous System Diseases; RDCRN
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
The cause of PAF is not known. The symptoms are caused by abnormal accumulations of
Symptoms
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,
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.
| 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 | ||
|
Difficulty getting a full erection
Difficulty getting an erection
[ more ] |
0000802 | |
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 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.
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Conditions with similar signs and symptoms from Orphanet
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|---|
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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.
|
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
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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: https://www.dysautonomiainternational.org/ -
Dysautonomia Support Network
140 Pittman Street, Unit 106
Providence, RI 02906
Telephone: 401-830-4480
Website: https://www.dysautonomiasupport.org/
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.
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/.
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