What are the other Names for this Condition? (Also known as/Synonyms)

• Bradbury-Eggleston Syndrome
• Idiopathic Orthostatic Hypotension
• PAF (Pure Autonomic Failure)

What is Pure Autonomic Failure? (Definition/Background Information)

• Pure Autonomic Failure (PAF) is a rare neurological disorder characterized by progressive dysfunction of the autonomic nervous system. It primarily affects the autonomic nerves that control involuntary bodily functions, such as blood pressure regulation, heart rate, sweating, and digestion
• Pure Autonomic Failure is a form of primary dysautonomia that is a group of disorders characterized by malfunctioning of the autonomic nervous system, which controls involuntary bodily functions, such as heart rate, blood pressure, digestion, and temperature regulation, often leading to a range of symptoms affecting multiple organ systems
• A diagnosis of Pure Autonomic Failure typically involves clinical evaluation, autonomic function tests, and exclusion of other conditions. Treatment focuses on managing symptoms through lifestyle adjustments, fluid and salt intake, and medications to alleviate orthostatic hypotension
• Prognosis varies, with Pure Autonomic Failure generally having a slow progression and a relatively stable long-term outlook, although symptoms can significantly impact daily life. Since many body systems, including the cardiovascular, gastrointestinal, thermoregulatory, and urinary systems, are involved, regular follow-ups are necessary

Who gets Pure Autonomic Failure? (Age and Sex Distribution)

• Pure Autonomic Failure typically affects adults, usually after the age of 50
• Both men and women can be affected by this condition
• The condition may occur worldwide, affecting individuals of all racial and ethnic groups

What are the Risk Factors for Pure Autonomic Failure? (Predisposing Factors)

• The exact risk factors for Pure Autonomic Failure are not well understood
• However, certain genetic and environmental factors may play a role. Some studies suggest a possible genetic predisposition to the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Pure Autonomic Failure? (Etiology)

The underlying cause of Pure Autonomic Failure, a subtype of dysautonomia (primary), is not fully known.

• It is believed to result from degeneration or dysfunction of the autonomic ganglia, which are clusters of nerve cells responsible for transmitting autonomic signals
• The exact trigger for this degeneration or dysfunction remains unclear

What are the Signs and Symptoms of Pure Autonomic Failure?

The signs and symptoms of Pure Autonomic Failure may be mild or severe and can vary from one individual to another. These may include:

• Orthostatic hypotension (low blood pressure upon standing)
• Postprandial hypotension (low blood pressure after meals)
• Excessive fatigue and weakness
• Urinary problems, such as difficulty emptying the bladder completely
• Gastrointestinal symptoms, such as constipation and bloating
• Sexual dysfunction
• Impaired sweating or abnormal sweating patterns
• Exercise intolerance

How is Pure Autonomic Failure Diagnosed?

A diagnosis of Pure Autonomic Failure (PAF) may involve the following tests and exams:

• Clinical evaluation: A thorough assessment of symptoms, medical history, and physical examination can help diagnose PAF
• Autonomic function tests: These tests measure various parameters related to autonomic function, such as blood pressure response to changes in body position, heart rate variability, and sweat production
• Tilt-table test: This test evaluates how the body responds to changes in posture, helping to diagnose orthostatic hypotension
• Laboratory tests and radiological imaging studies, as needed

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Pure Autonomic Failure?

The complications of Pure Autonomic Failure may include:

• Falls and injuries: Orthostatic hypotension increases the risk of falls, which can lead to injuries
• Cardiac complications: Fluctuations in blood pressure and heart rate can contribute to heart rhythm abnormalities and other cardiac problems

How is Pure Autonomic Failure Treated?

The treatment of Pure Autonomic Failure may involve the following measures:

• Lifestyle modifications: Measures to manage orthostatic hypotension, such as maintaining adequate fluid intake, increasing salt consumption, wearing compression stockings, and making postural changes slowly
• Medications: Certain medications can help increase blood pressure or improve symptoms, such as fludrocortisone, midodrine, and droxidopa
• Supportive care: Managing specific symptoms and complications, such as using laxatives for constipation or addressing sexual dysfunction

How can Pure Autonomic Failure be Prevented?

Currently, there are no known ways to prevent Pure Autonomic Failure. However, managing and controlling risk factors for cardiovascular health, such as maintaining a healthy lifestyle and regular exercise, may help support overall autonomic function.

What is the Prognosis of Pure Autonomic Failure? (Outcomes/Resolutions)

Pure Autonomic Failure is a chronic condition with no cure.

• However, with appropriate management and lifestyle modifications, individuals with this condition can effectively control symptoms and lead a fulfilling life
• The prognosis varies among individuals, and regular monitoring and medical follow-up are essential to address any potential complications

Additional and Relevant Useful Information for Familial Dysautonomia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/