My Complicated Story--Pots, Mast Cell Disease?

[POTS Mom]

I am new to the forum and newly diagnosed with POTS. I was diagnosed by a doctor 3 states away, where I traveled for an evaluation, and cannot get in to a local doctor for another 2 months. So I anticipate relying on this forum a lot in the next month as I get my bearings on this new diagnosis. Anyway, there is still more about my illness and symptoms that I am working on figuring out. I am hoping that you can help. Here is my story:

I am a 41-year-old married mother of four. Most would say that, until the past few years, I’ve been relatively healthy most of my life. However, those who know me well know otherwise. As a child I was prone to infections and chronic diarrhea. I had strep throat more than anyone I’ve ever met. Finally, at age 19, after being on antibiotics continuously for most of my sophomore year of college, I had my tonsils removed. However, I continued to get sick and was hospitalized for c. diff. after a course of penicillin at the age of 24. I met my husband that year and he once referred to me as the “sickliest healthy person” he’d ever met. You see, I always exercised: working out at the gym 3-5 days a week and was a dance minor in college. I was a huge fan of fruit, vegetables and lean protein. However, I always caught every “bug” that was going around and had an incredibly sensitive stomach. But, I lived with it and accepted it as part of my life. I went on to have 4 children (with several miscarriages in between), was continuously either pregnant or breastfeeding throughout my late 20s and 30s. But then, when I finally weaned my youngest child 2 years ago, my health began to decline.

I began to experience increased diarrhea at the frequency of 5-6 times per day or more and was having incredible fatigue. I was referred to a gastroenterologist who diagnosed lactose then fructose intolerance and, later, small intestine bacterial overgrowth. Multiple courses of antibiotics proved ineffective. I became sicker and sicker during this time. I was having 8-12 BMs per day most days, even while taking Imodium, Lomotil and Lotronex. It was determined (and blood tests confirmed) that a secondary yeast infection (Candida) had developed in my GI tract so I was prescribed Diflucan.

During this time period many strange, seemingly unrelated symptoms began to develop. I started experiencing severe joint pain, mostly in my hips and lower back. As the disease progressed my smaller joints, in my fingers and toes, would sometimes become sore and swollen as well. I had tingling in my fingers and my feet became extraordinarily cold. Along with the intractable diarrhea, I had stomach pain, nausea at times, gas, bloating, and burning sensations throughout my GI tract. I would have mysterious rashes that would appear on my body (and then disappear a few days later) and a persistent rash on my face. My eyes and mouth became excessively dry and my hair began to fall out. I had numbness in my left arm and leg that would come and go. My sleep was significantly disrupted. My migraines became more frequent and intense and were 3-5 days in duration. All of my symptoms were magnified just before and during my menstrual cycles, which became heavy, painful and irregular. All of the symptoms remain today, as well as a fever that developed towards the end of 2012. I have lost nearly 50 lbs. over the past year and am struggling to keep my weight steady.

I also developed increased sensitivities to, not just food, but medications, chemicals, even certain smells. My gastroenterologist ordered a MRT food allergy test for me (www.nowleap.com) which revealed 19 delayed-onset food allergies. I have had adverse reactions to many of the medications that my doctors have prescribed to help with the many symptoms that I have developed, including: Gabapentin, Nortriptyline, Amatriptyline (prescribed for the diarrhea), and several others. However, the worst reaction I have had yet to any substance was the contrast dye from a CT scan I had in January. I felt so very sick afterwards: I had horrible diarrhea, was nauseous, shaking uncontrollably (for hours), had a headache, tachycardia, etc. In fact, I asked my husband to take me to the emergency room when he got home from work that day. We didn’t go simply because we’ve been before and they never seem to know what to do with me. )

Anyway, I’ve been tested for just about everything. In fact, I spent two weeks at the Cleveland Clinic last month with each day jam-packed full of testing and procedures. They did find that I have POTS and IgG subclass deficiencies as well as some other less significant things (vitamin deficiencies, MTHFR mutation, etc.). But, I have to wonder if I may have a mast cell disorder. I know that my serum trytase is normal so I’m thinking it could be either mast cell activation syndrome or mastocytic enterocolitis. Here’s the thing: whereas I DO have flushing and itching at times, these spells are infrequent (maybe only once every week) and I have never had hives, wheezing, or any of the other respiratory symptoms that come with anaphylaxis. So, I don’t know if I’m way off base with this suspicion. Can anyone who knows more about either of these diagnoses give me a little insight?

One last thing: I am having thyroid surgery in 4 days for a 6.0 cm nodule that was found to have atypical cells. My pre-surgery assessment is tomorrow. If there is any risk that I could have a mast cell disease I’d like to give them a “heads up” since I know certain medications given during surgery can be problematic. My allergist said that would be a good idea to go ahead and do so. By the way, we did go ahead and do the 24 hour urine (per my request) and some blood work to test for MCAS. As for testing for mastocytic enterocolitis: I’ve read that it’s a matter of a special stain on colonoscopy slides. I have asked my gastroenterologist if we can do this (can this be done retroactively?) but he is dragging his feet. Any advice or recommendations? By the way, I know this is a dysautonomia forum but I am posting here as I know there are many with POTS who also have mast cell disease so I'm hoping that some will read this and be able to help.

[ramakentesh]

Sorry about your health issues.

My experience was maybe a little different. I developed POTS out of the blue and then ankylosing spondylitis (via sudden agonising sacroilitic pain) out of the blue.

When I first developed these health problems I also experienced some utterly bizarre intolerances to food and aftershave - all i could eat for a short while was green apples and celery. These intolerances went away after about 3 months and I was left with waxing and waning POTS and ank spond pain.

While there is an association between ank spond and other inflammatory conditions and POTS, there are many POTS patients who dont have inflammatory disorders. SOme with EDS have pain as well and secondary POTS.

Finally - not sure about mast cell disorders. Some literature suggests MCAD can be associated with a small portion of truly hyper POTS patients. Other doctors suggest its more common in POTS but the research is preliminary.

[DoozlyGirl]

Welcome Shelley,

I was diagnosed with autonomic neuropathy and orthostatic hypotension which we later learned that my immune system (MCAS) was holding my autonomic nervous system hostage during my anaphylactic reactions to everything from meds, foods, CT and MRI contrast, personal care products and home products, and other items. I do see many similarities and believe mast cells could be involved in your reactions, especially delayed food reactions and to CT contrast. You'll want to share these documents with your surgeon and anesthesiologist as they include important information regarding mast cell degranulating medications and surgical considerations in mast cell disorders.

http://www.mastocytosis.ca/symptoms.htm

http://www.mastocytosis.ca/sa.htm

While both POTS and MCAS are syndromes, this means they are actually collections of symptoms, and are not diseases. They do not indicate the cause of your issues. I have recently learned that I have many transciption errors in my DNA that point to decreased efficiency/blocked enzymatic pathways within the biochemistry of my phase 1 and phase II liver detoxification systems. MTHFR falls under phase II and is a really important indication that you can't properly convert inactive folate to active folate, as well as hosing up dozens of other critical functions. In general, these SNPS - single nucleotide polymorphisms/DNA "mutations" are due to methylation issues. I'd suggest pursuing further testing to look at other mutations/SNPs that are impacting your biochemistry and causing your immune system to go into overdrive. I believe your infections (candida/SIBO, miscarriages, GI issues, strep, food allergies) are likely attributed to methylation issues. Google MTHFR and begin reading about 23andMe geneome testing, MTHFR testing and importance of looking at additional SNPS. Dr Amy Yasko and Dr Ben Lynch are also both credible resources.

Good luck with your surgery.

Lyn

[corina]

Hi Shelley, welcome to the forum, I'm sorry you're having such a difficult time. I agree with Lyn that you might want to talk to your anesthesiologist about your issues, it's something they need to know before the procedure. Hope surgery will go well and that you will recover smoothly!

[blueskies]

Hi Shelley,

I have allergies to quite a few medications as well as intolerances/adverse reactions to many of them as well. I also agree with Lyn that you might want to talk to your anesthesiologist about your issues. I would, and have done a number of times.

It's nice to meet you. I hope the surgery is as easy as possible and your recovery quick and easy as possible.

blue