Dysautonomia: Diagnosing an Invisible Illness

Written by Rebekah Natanov on . Posted in Health & Wellness

Imagine rising from bed each morning, only to promptly pass out cold on the floor. Imagine suddenly no longer being able to digest any of the food you eat. Imagine going to work with a blinding migraine each day.

For millions of Americans with dysautonomia, this is their daily reality.

Dysautonomia is an umbrella term for disorders of the autonomic nervous system (ANS). Approximately 70 million people worldwide suffer from some form of dysautonomia, yet there is a dearth of research — and funding for research — on these conditions, so they remain poorly understood and drastically underdiagnosed.

The ANS governs the involuntary bodily processes that occur automatically, including regulation of heart rate, blood pressure, body temperature, digestion, and perspiration. Symptoms of dysautonomia differ from person to person. They may include any combination of tachycardia (rapid heart rate), chest pain, lightheadedness, fainting, fatigue, headache or migraine, delayed or rapid gastric emptying (food is digested too slowly or too quickly), nausea, blood pooling in the extremities, sleep abnormalities, cognitive impairment, orthostatic intolerance (worsening of symptoms when upright or standing and improvement when lying down) — the list goes on. The wide variety of symptom combinations contribute to the difficulty in recognizing and diagnosing ANS conditions.

Dysautonomia can be a primary condition, or it may occur secondary to other conditions, such as connective tissue disorders, autoimmune disorders, or diabetes. Hormonal changes — such as puberty or pregnancy — viral illness, and bodily trauma are all potential triggers for developing dysautonomia.

The most common forms of dysautonomia are postural orthostatic tachycardia syndrome (POTS), neurocardiogenic syncope (NCS), pure autonomic failure (PAF), and multiple system atrophy (MSA). POTS impacts an estimated 1–3 million Americans, and teens have a 1 in 100 chance of developing POTS before adulthood. The mean age of diagnosis is 14 years old, but half of individuals are not diagnosed until adulthood. POTS is often described as “the most common condition you’ve never heard of.”

Despite being so common, dysautonomia is often misdiagnosed. According to Dysautonomia International, the average length of time to diagnosis with POTS is nearly six years, with 85 percent of patients receiving an anxiety diagnosis or being told it is “all in their head” prior to receiving a proper dysautonomia diagnosis. The severity of symptoms varies by individual; while some people experience mild symptoms, 25 percent are too disabled to work or go to school. Dysautonomia is referred to as an “invisible illness,” since many individuals appear healthy on the outside.

Stephanie, a POTS patient in Silver Spring, Maryland, started having fainting episodes at age 5 but wasn’t diagnosed with POTS until she was in her 40s. “I always thought that something was wrong, but everyone kept telling me that I was fine,” she said. Now that she has a diagnosis and a treatment plan, Stephanie is better able to cope with her symptoms and rarely has fainting episodes. With a combination of medications, a high-salt diet, and a drastic increase in the amount of fluids she consumes in a day, she is largely able to function and live her life.

Patients who are suspected of having dysautonomia should get autonomic testing, including a tilt table test with heart rate and blood pressure variability to determine orthostatic intolerance. The poor man’s tilt table test, which can be done in a doctor’s office, involves taking the patient’s blood pressure and heart rate while lying down, and then again multiple times several minutes apart after standing up. A heart rate increase of over 30 beats per minute or over 120 beats per minute within 10 minutes of standing meets the diagnostic criteria for POTS. A drop in blood pressure and/or heart rate upon standing indicates NCS.

One rare type of dysautonomia, familial dysautonomia (FD), has a known genetic cause. This severe disorder is most often found among Ashkenazi Jews and can be diagnosed through genetic testing.

While there is no cure for dysautonomia, patients remain hopeful that new advances and increased funding for research will lead to one. In the meantime, increasing awareness and medical professional education can help patients get diagnosed and get their symptoms under control, leading to better quality of life.

For more information about the various forms of dysautonomia, check out www.dinet.org or www.dysautonomiainternational.org.

By Rebekah Natanov

Rebekah Natanov is a public health researcher with a Master of Public Health from The George Washington University and a dysautonomia patient. Originally from Columbia, Maryland, she has lived in Kemp Mill with her husband and three children since 2011.