This is a story about missed diagnosis after missed diagnosis, a persistent patient, and finally some answers that brought substantially improved health. It brings home a certain unsteadiness about diagnosing disorders like chronic fatigue syndrome and POTS (Postural Orthostatic Tachycardia Syndrome) that’s both unsettling and exciting. It’s also a cautionary tale for anyone predisposed to rely solely upon what doctors say.
This story goes in our ‘alternate diagnoses’ basket where what appears to be ME/CFS/FM (or in this case POTS) also turns out to be something else, and thankfully so.
The story of Lauren Stiles’s (or POTSgrrl on her blog) physical breakdown is all too familiar. An athletic, outgoing, and energetic environmental attorney, Lauren woke up sick on Jan 2, 2010 (yes, she remembers the exact date) in the middle of a ski trip. Besides skiing, she enjoyed surfing, kayaking, and mountain biking. She was the furthest thing from a couch potato you could imagine, but on Jan 2, 2010 her body quickly and dramatically fell apart. She went from snowboarding to barely able to stand in four days.
Upon standing, Lauren’s heart rate would rise from 60-80 bpm to about 130 bpm. At its peak it could hit a dangerously high 230 bpm. While she was in the hospital for two months, the doctors were so alarmed at her escalating heart rate that they kept her bedridden. (The forced bed rest made her symptoms worse, by the way.)
From time to time she would faint; luckily she often had warning signs (see below) before fainting that would allow her to sit down first.
“I get lightheaded, dizzy, off-balance feeling, my vision gets grayed out or blurry or tunnel vision, I feel like my blood is being flushed downwards to my feet, my legs feel heavy, like I’m wearing cement shoes, and I usually get a bit sweaty on my upper body, I feel shaky and I feel short of breath.”
Her symptoms didn’t cease when she would lie down. Her pounding heart was so loud when she would lie down to sleep that she had to turn the TV up loud to distract her from the sound of her heart. At times her throbbing pulse appeared to be flashing in her eyes, and she suffered from vertigo even when lying down. Acid reflux didn’t help matters.
Nerve damage left her with tingling, numbness, cold feelings, too little or too much sweating, pain, blotchy purple skin color, swelling in her lower arms and legs upon standing, and more.
If that wasn’t enough there was the diarrhea and vomiting several times per day, which lead to an extreme weight loss (more than 50 pounds in three months), plus hypersensitivity to pain and touch, noise, and odors. She was easily startled, experienced flushing and hives almost everyday, and had a new onset of food allergies and lactose intolerance. She had a “pins and needles” feeling, unevenly dilated pupils, spaciness, difficulty focusing, and “brain fog.”
Like many people with POTS, she was so lightheaded, at times she could barely walk from her bed to the bathroom.
This lady was in bad shape! Like most people with her collection of symptoms, she was misdiagnosed frequently before she got to the heart of the matter. Lauren was misdiagnosed with Irritable Bowel Syndrome, Chronic Fatigue Syndrome, Fibromyalgia, Myofascial Pain Syndrome, Addison’s, Carcinoid Syndrome (which is a form of neuroendocrine cancer), and “it’s just stress, have a glass of wine.” After getting the runaround for nine months, Lauren was finally diagnosed with autonomic neuropathy and POTS. It turned out that her POTS/autonomic neuropathy diagnosis was preliminary–just the beginning of a longer search that ended up with yet another diagnosis.
“The internet may have saved my life.” -POTSgrrl
Like many young women with POTS, Lauren was initially misdiagnosed as having an anxiety disorder, and indeed she noted that some of the symptoms associated with POTS can look like a ‘permanent anxiety attack.’These symptoms, such as tachycardia when standing, shortness of breath, and an increased sensitivity to pain are caused by a combination of low blood volume, blood pooling in the lower body, excessive plasma norepinephrine, and a denervation hypersensitivity caused by damaged small nerve fibers. When researchers separate out the physical symptoms associated with POTS, and look for the cognitive symptoms of anxiety, POTS patients actually have lower rates of anxiety and panic disorder than healthy controls.
Most of her doctors took her seriously, but she also met up with some “amateur psychologists” among the doctors. One MD decided her fainting, chest pains, , swollen lymph glands, night-sweats and drastic weight loss were simply her way of telling her husband that she wanted kids. This MD ignored the fact that she was a busy career woman who was active in politics, served on several non-profit boards, and who put herself and her husband through graduate school.
- Check out ‘Maggie’s Panic’ - Dr. Bells story of a young woman diagnosed with anxiety disorder who actually had low blood volume.
Despite being located just outside of New York City and seeing some of the best doctors at the best hospitals in the nation,Lauren ended up diagnosing her own POTS by going to the internet, and then getting it confirmed by her doctors.
The POTS diagnosis, while a relief, was just the beginning of an ongoing battle with the medical profession to dig deeper.
Small Fiber Neuropathy
Lauren’s nerve damage was discovered by accident. While looking for an immune system disorder called mastocytosis, the doctors found that 80% of her sudomotor nerves, the small fiber nerves that controlled blood flow to the skin were damaged or missing. She had, her pathologist said, a “profound autonomic neuropathy.”
These nerves should have been telling her blood vessels to’ tighten up’ when she stood, which helps return blood flow to the heart against the force of gravity. Instead they were letting blood pool into her legs. The subsequent lack of proper blood flow to her brain was causing her heart to race in an attempt to restore normal blood flow to her brain.
Nerves don’t just spontaneously combust. -POTSgrrl
Finding her small fiber neuropathy (SFN) was a big step forward, but getting her doctors to act on that finding was something else indeed.
It’s not possible to determine the cause of POTS or SFN in many cases, but that didn’t mean, she felt, that doctors shouldn’t at least try. After all the pain and misery she’d been put through, she felt they should at least do that… but most of them were reluctant to do so.
“I saw numerous so-called “POTS experts” who told me there was no way to identify the cause of my POTS and that I shouldn’t bother looking because it was just “idiopathic.” They also said it would “probably just go away on its own in 5-10 years.” POTSgrrl
In fact, many things can cause SFN and it’s not always possible to find a cause, that doesn’t mean you shouldn’t try.
“It’s just a matter of your doctors and you working really hard to figure it out. Modern medicine does have its limits, so not everyone will figure out what is causing their POTS, but it is sure worth a 110% try if you are as sick as most POTS patients.” POTSgrrl
She refused to rule anything out until tests actually ruled it out.
It was not easy. When she didn’t test positive for the antibodies associated with Sjögren’s Syndrome (SS-A, SS-B and ANA), she was told that wasn’t it. One year and many neurologists later, Dr. Kamal Chémali, a neurologist at the Cleveland Clinic (who’d recently opened up a new autonomic lab in Norfolk, Virginia), finally gave her the full workup she needed. When Lauren questioned the need for a minor salivary gland lip biopsy, because her prior neurologist had “ruled out” Sjogren’s due her negative antibody tests, Dr. Chémali, told her that approximately 40-70% of people with Sjögren’s do not test positive for the typical Sjögren’s antibodies, and that a minor salivary gland lip biopsy was the gold standard test.
Although all of the other Sjögren’s related antibody tests had been negative, her lip biopsy revealed she had Sjögren’s Syndrome. Despite having the term “syndrome” in it’s name, enough detail has been discovered about Sjögren’s that it is now considered a specific disease.
The POTS Puzzle
POTSgrrl (Sjögren’sgrrl?) eventually discovered that an autoimmune disorder, Sjögren’s Syndrome, was the cause of her POTS. Sjögren’s Syndrome isn’t the only autoimmune disorder that can cause POTS or other forms of autonomic dysfunction. Lupus, Anti-Phospholipd Syndrome, Guillain Barré Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, Multiple Sclerosis, Crohn’s, Addison’s and Graves’ Diseases and, Hashimoto’s Thyroiditis, can cause or be associated with autonomic neuropathy, which can sometime present just like POTS.
In addition to autoimmune disorders, Diabetes, endocrine abnormalities, severe deconditioning, infections, genetic disorders, inflammatory disorders, Ehlers-Danlos Syndrome, connective tissue diseases, head, neck and spinal cord injuries, and pregnancy can trigger POTS or POTS like symptoms as well.
Lauren’s POTS was caused by SFN impacting her autonomic nerves.Sjögren’s Her SFN was caused by Sjögren’s Syndrome. Instead of an ‘idiopathic’ (no known cause) syndrome, she had specific autoimmune disease that was attacking her autonomic nervous system as well as some of her major organs.
Lauren actually got diagnosed fairly quickly. It takes the average Sjogren’s patient six years to get diagnosed. Sjogren’s is the second most common autoimmune disease in the US, behind rheumatoid arthritis, with an estimated 4 million suffers, but only 1 in 4 is diagnosed.
Lauren was persistent–and fortunate–to finally find a neurologist, Dr. Chémali, willing to do a full workup. One wonders how many POTS or ME/CFS patients are willing and able to so consistently buck their doctors opinions.
POTS can be caused by many different things, but Lauren believes a significant number people diagnosed with POTS may have undiagnosed Sjögren’s.. Like POTS, Sjögren’s predominantly impacts women. Studies suggest that small fiber neuropathy is often the first problem to show up in Sjögren’s, while the antibodies doctors typically associate with Sjögren’s often show up later or not at all. Few doctors, however, test for small fiber neuropathy. If you don’t have dry eyes and dry mouth. you’re probably not going to get tested for antibodies to Sjögren’s, and you’re certainly not going to get a lip biopsy. That suggests that a subset of younger women with autonomic nervous system problems who have early or atypical Sjögren’s probably aren’t getting properly diagnosed.(—–incorporate Dr. Birnbaum info this paragraph—(
Sjögren’s Syndrome typically attacks exocrine glands that produce moisture in the mouth, eyes, sinuses, gastrointestinal tract, and lungs, but the centeral and peripheral nervous system can be impacted as well. Sjögren’s Syndrome whacked the salivary glands in my mother so hard that they looked like bananas, but the real damage came when it attacked her kidneys.
Often considered the hallmark symptoms of Sjögren’s , dry mouth and eyes are not always seen. Despite her horrifically disturbed autonomic nervous system, Lauren had only mildly dry eyes and no dry mouth at all.
This is a very variable disorder. Let’s take a look at how Sjögren’s can present.
There is no organ, system or tissue in the body that Sjögren’s cannot impact, although no patient has every possible symptom. The most
common symptoms of Sjögren’s are dry eyes, dry mouth, fatigue, joint pain, muscle pain, small fiber neuropathy pain or numbness in the feet and brain fog. Sjögren’s can produce many other signs and symptoms including shortness of breath, frequent dry coughing, dry stuffy sinuses, sinusitis, canker sores, nosebleeds, oral infections, cavities, receding gums, difficulty speaking or swallowing, salivary gland swelling, acid reflux, heartburn/GERD, cramps, reduced gut motility, nausea, vein swelling, dry skin, itchy eyes, stinging pain in the eyes, eye infections, blurred vision, painful intercourse, vaginal dryness, yeast infections, swollen liver, primary biliary cirrhosis, reduced liver functioning, central nervous system impairments, lesions on the brain, … a large collection of signs and symptoms that reminds one of how difficult a diagnosis can be.
The fatigue experience in Sjögren’s is apparently similar to that found in ME/CFS. Lauren described her fatigue in a quite ME/CFS-like manner.
I gave this (fatigue) a category unto itself because it doesn’t fit neatly into any other category. It is a fatigue that is not relieved by rest and sleeping. You can sleep well for 10 hours, and wake up feeling like you just got run over by a truck.
The best description I have heard is someone who said it feels like you have the flu every day, or it feels like you have been beaten up by a thug. When the fatigue hits me bad, I feel like I have cement shoes on and bowling balls tied to my arms and head. It takes great effort just to get out of bed or stand up from a chair. - POTSgrrl
The Diagnostic Dilemma
A couple of things get in the way of diagnosing these conditions correctly. Since ME/CFS doesn’t fit into a recognized medical specialty like rheumatology, most people with ME/CFS probably get diagnosed by general practitioners who don’t have the background to understand or treat the disorder. People with fibromyalgia with POTS see rheumatologists who don’t have a clue about the autonomic nervous system. After they get past the psychologists for anxiety disorder, most POTS patients probably next see cardiologists, most of whom know little about POTS.. As Lauren learned more about POTS and her nerve damage, she realized she needed a neurologist specializing in autonomic neurology.
They’re rare–she thought maybe 50-100 were present in the entire country–but their level of expertise is variable; before she found good nuerologist at the Cleveland Clinic, Lauren went through several neurologists who seemed to know less about POTS than she did. One absurdly recommended that she get used to being sick because “there is nothing we can do for you people.”
Her communications with other patients led Lauren to realize that many people with POTS who have autoimmune issues are not getting the help the need, and many people with Sjögren’s Syndrome who have autonomic nervous system (ANS) issues are not getting the help they need either. (Since other autoimmune disorders can affect the ANS as well, you can throw in Lupus, MS, etc., patients in there). Lauren found that women on Sjögren’s forums frequently reported dizziness, fainting, and rapid heartbeat when they stood up–all potential signs of undiagnosed POTS or another form of autonomic dysfunction
If that’s so, you can bet your bottom dollar that many more people diagnosed with the biggest ‘wastebasket disorder’ of them all–chronic fatigue syndrome—or fibromyalgia with autoimmune or autonomic nervous system problems are not getting diagnosed.
Just last year two studies, both authored by Dr. Julia Newton, strongly associated Sjogren’s Syndrome with autonomic nervous system problems, and helped clarify the ANS connection in that disorder. Dr. Newton has been uncovering autonomic nervous system issues in ME/CFS, Sjogren’s Syndrome, and liver disease.
Lauren’s POTSgrrl blog is a gold mine of good information on POTS, Sjögren’s Syndrome, and autonomic nervous system dysfunction, and we’re going to continue mining it. Lauren highlighted how important patient education is in these disorders, and with that in mind we’re going to ask: “Could I have autonomic nervous system dysfunction, POTS, or Sjögren’s Syndrome?”, If the answer to that is yes, we’ll see what one very informed patient, Lauren, suggests you might do next.
We’ll also be looking closer at Lauren’s unusual treatment approach which paid off – not with complete health –but with very substantial gains.
In 2012 Lauren created a non-profit; Dysautonomia International to support research and foster a better understanding of the often hidden autonomic nervous system disorders among us. The Dysautonomia International website offers information on POTS, doctors that specialize in diagnosing and treating autonomic disorders, and ways to get involved with research.