Última actualización:
October 23, 2018
Años publicados: 2018
NORD gratefully acknowledges Caroline Kim, NORD Editorial Intern from the Keck Graduate Institute, and Italo Biaggioni, MD, Professor of Medicine and Pharmacology, Associate Director, Clinical Research Center, Vanderbilt Autonomic Dysfunction Center, Vanderbilt University Medical Center, for assistance in the preparation of this report.
The autonomic nervous system controls involuntary actions such as widening or narrowing of our blood vessels. Failure in this system can lead to orthostatic hypotension, which means a sudden drastic drop in blood pressure especially from a lying or sitting down position. The exact cause of pure autonomic failure (PAF) is not known, but is defined as autonomic failure without central nervous system (brain or spinal cord) involvement.
The main symptom of PAF is orthostatic hypotension. Due to the drop in blood pressure, people can have dizziness or faintness including syncope (loss of consciousness) in severe cases.
Other related symptoms include visual disturbances, neck pain, breathing difficulty, and decrease in sweating which can lead to heat intolerance. Constipation and urinary problems such as frequent urination and frequent urinary infections may also occur as well as tiredness. A first sign in men can be impotence.
The symptoms of orthostatic hypotension are more common in the morning, after eating, after exercise, in hot weather, and at high altitudes. Symptoms worsen when walking, standing or after eating. Symptoms should be relieved by lying down.
Signs of PAF include a fall in blood pressure by more than 20 mm systolic or 10 mm diastolic after at least 1 minute of standing.
PAF is caused by abnormal accumulation of a protein called alpha-synuclein in autonomic nerves. This protein helps nerve cells communicate, but its function is not fully understood. Patients with PAF have a loss of nerve cells (neurons) in the intermediolateral column of the spinal cord.
The worldwide prevalence of PAF is not known. The age of onset is during adulthood usually in individuals over 60 years. It is more common in males than in females.
PAF is diagnosed by exclusion of other disorders. Multiple blood pressure measurements that show a fall in blood pressure by more than 20 mm systolic or 10 mm diastolic after at least 1 minute of standing is typical.
Norepinephrine levels in the blood and urine are usually greatly reduced and do not increase in an upright position.
The neurological exam of a patient with PAF will show no signs of movement disorders.
Treatment
There is currently no specific treatment for PAF and treatment for focuses on decreasing the effects of the symptoms.
Non-medical measures for sudden changes in blood pressure include tight compression stockings, standing up slowly, increase in salt and water intake, and abdominal binders. These measures are taken to stabilize the sudden changes in blood pressure. Consuming more salt and water may increase the volume of blood and thus help increase blood pressure. Standing up slowly may prevent blood pressure from decreasing too much or too fast. Wearing compression stockings or abdominal binders helps maintain blood pressure by promoting blood flow from the legs to the heart and prevents too much blood from staying in the low parts of the body. Raising the head of the bed by about 4 inches can help prevent blood pressure from increasing too much when lying down.
Symptoms of constipation can be managed with high-fiber diet and stool softeners. Problems with urination can be resolved by insertion of a thin rubber tube (catheter) into the bladder.
Drug treatments for symptomatic relief include fludrocortisone, midodrine, droxidopa (Northera), and other vasopressors to manage the water and blood pressure balance of the body.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
JOURNAL ARTICLES
Mabuchi N. Progression and prognosis in pure autonomic failure (PAF): comparison with multiple system atrophy. Journal of Neurology, Neurosurgery & Psychiatry. 2005;76(7):947-952. doi:10.1136/jnnp.2004.049023
Jordan J, Biaggioni I. Diagnosis and treatment of supine hypertension in autonomic failure patients with orthostatic hypotension. The Journal of Clinical Hypertension 2002;4(2):139-145. doi:10.1111/j.1524-6175.2001.00516.x
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. Neurology. 1996;46(5):1470-1470. doi:10.1212/wnl.46.5.1470
Bradbury S, Eggleston C. Postural hypotension. American Heart Journal. 1927;3(1):105-106. doi:10.1016/s0002-8703(27)90177-x
INTERNET
Pure Autonomic Failure. Vanderbilt Autonomic Dysfunction Center. https://ww2.mc.vanderbilt.edu/adc/4790. Accessed October 22, 2018.
Pure Autonomic Failure. Genetic and Rare Diseases Information Center. Last updated: 4/9/2015. https://rarediseases.info.nih.gov/diseases/10428/pure-autonomic-failure Accessed October 22, 2018.
Elghozi J-L, Senard J-M. Pure Autonomic Failure. Orphanet. Last update: January 2009. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 Accessed October 22, 2018.
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Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
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