Pure Autonomic Failure

What is pure autonomic failure?

Pure autonomic failure (PAF) is a rare neurodegenerative condition that affects your autonomic nervous system. The most common feature of PAF is orthostatic hypotension — a significant drop in blood pressure when you stand up. But PAF often causes other issues as well.

Your autonomic nervous system controls the automatic (out of your control) functions of your body that you need to survive. This includes things like blood pressure, heart rate, digestion and breathing. With PAF, you might first notice that you feel dizzy when you get up from a chair. You may notice other symptoms over time, like loss of bladder control or blurry vision.

PAF tends to develop in adults in their 40s to 60s. Healthcare providers used to call this condition idiopathic orthostatic hypotension or Bradbury-Eggleston syndrome.

What are the symptoms of pure autonomic failure?

The most common symptom of pure autonomic failure is orthostatic hypotension. This can make you feel dizzy and/or cause fainting when you transition to a standing position.

PAF can affect several organ systems. Other symptoms of PAF may include:

• Sweating less than usual (anhidrosis) or more than usual (hyperhidrosis).
• Issues with your pupils widening and narrowing properly, which may cause blurred vision.
• Difficulty emptying your bladder (urinary retention).
• Loss of bladder control (urinary incontinence).
• Constipation or loss of bowel control (fecal incontinence).
• Sexual dysfunction, like erectile dysfunction or anorgasmia.

These symptoms may happen before or after developing orthostatic hypotension. About half of people with PAF also have mild anemia.

What causes pure autonomic failure?

An abnormal buildup of a protein called alpha-synuclein in autonomic nerves causes pure autonomic failure.

The affected nerve cells are in clusters (called autonomic ganglia) on either side of your spinal cord or near organs. Over time, the number of these nerve cells decreases, causing autonomic malfunctions. PAF doesn’t affect any other nerves, and your brain and spinal cord don’t experience damage. Researchers don’t know why the buildup of alpha-synuclein happens or fully understand the purpose of the protein.

Alpha-synuclein also builds up in your brain if you have Parkinson’s disease, multiple system atrophy or Lewy body dementia. Some — but not all — people who have pure autonomic failure eventually develop one of these conditions.

How is pure autonomic failure diagnosed?

The diagnostic process for pure autonomic failure mainly involves ruling out other conditions that cause orthostatic hypotension.

To start, your healthcare provider will:

• Ask about your symptoms and medical history.
• Do a physical exam and a neurological exam.

They’ll then likely recommend some tests. These may include:

• Tilt table test: This test shows how your blood pressure responds to standing up after lying down.
• QSART (quantitative sudomotor axon reflex test or sweat) test: This test looks at the nerves that control your sweating. A QSART can help diagnose autonomic nervous system conditions, peripheral neuropathies and some types of pain disorders.
• Imaging tests: Cardiac functional imaging and brain MRI scans can help rule out other conditions.
• Laboratory tests: Having low levels of norepinephrine in your blood and pee while lying down with minimal to no increase on standing typically supports a PAF diagnosis.
• Thermoregulatory sweat test: This test measures how much you sweat in a room that has controlled temperature, humidity and airflow capabilities. Providers don’t use this test very often.

Going through this testing process may feel overwhelming. But know that having the right diagnosis is important to getting the best care.

What is the treatment for pure autonomic failure?

There’s no cure for pure autonomic failure, so treatment involves managing its symptoms. Your healthcare team will work with you to tailor a plan that’s unique to your needs and goals.

Managing orthostatic hypotension

Your healthcare provider may recommend several strategies for managing orthostatic hypotension.

Examples of non-medical strategies include:

• Slowly transitioning from lying or sitting positions to standing.
• Increasing your water intake. Providers may recommend drinking 3 liters of water a day.
• Increasing your salt intake or using electrolyte-replacement beverages.
• Elevating the head of your bed four to six inches so you’re lying on an incline.
• Wearing waist- or thigh-high compression garments.

Certain prescription medications may also help with orthostatic hypotension.

Managing bowel issues

For constipation, your provider may recommend eating foods with plenty of fiber and taking stool softeners. If constipation persists, you may need to use enemas.

For a loss of bowel control, treatment options include:

• Dietary changes.
• Bowel training.
• Medications like loperamide and diphenoxylate.
• Surgery, like sacral nerve stimulation or colostomy.

Managing urinary issues

If you have urinary retention, your provider may recommend using a Foley catheter to empty your bladder. Certain medications, like bethanechol, can also help.

The following medications can help urinary incontinence (an overactive bladder):

• Oxybutynin.
• Mirabegron.
• Tolterodine.

If medication doesn’t help, using a catheter may be a better option.

Managing sexual dysfunction

Certain medications, like sildenafil or tadalafil, can help erectile dysfunction. But these medications may worsen orthostatic hypotension.

Can I prevent pure autonomic failure?

Pure autonomic failure isn’t preventable. Researchers don’t know why the buildup of alpha-synuclein in autonomic nerves happens in PAF.

What is the prognosis for someone with pure autonomic failure?

The prognosis (outlook) for people with pure autonomic failure varies. PAF is progressive, which means it gets worse over time. For many, this happens slowly over decades. But PAF affects each person differently.

In a study of 100 people with PAF, 34% of them developed Parkinson’s disease, Lewy body dementia or multiple system atrophy within four years of receiving their PAF diagnosis.

Your healthcare team will give you a better idea of what to expect based on your unique situation. They’ll work with you closely to develop a treatment plan and monitor your health over the years.

What is the life expectancy of someone with pure autonomic failure?

It’s difficult for researchers to give a number related to life expectancy for someone with PAF. This is because the condition is rare, and there aren’t many long-term studies on it.

One study reported the average survival rate to be 12.5 years after diagnosis. But keep in mind that the condition affects everyone differently. Talk to your healthcare team about what to expect based on your symptoms.

When should I see my healthcare provider?

If you have pure autonomic failure, you’ll need to see your healthcare provider regularly to keep an eye on the progression of PAF and to see if your treatment is working.

If you develop signs of Parkinson’s disease, Lewy body dementia or multiple system atrophy, see your provider as soon as possible.

What questions should I ask my healthcare provider about PAF?

If you have PAF, it may be helpful to ask your provider the following questions:

• What treatments do you recommend?
• What can I do at home to manage PAF?
• How quickly will PAF progress?
• What other signs and symptoms should I be looking out for?
• What’s my risk of developing Parkinson’s, Lewy body dementia or multiple system atrophy?
• How often should I have medical appointments?