Tuesday, January 31, 2017

Symptoms That Led To A Mast Cell Activation Diagnosis

In a previous post titled, How I received My Mast Cell Activation Diagnosis, I mentioned I would discuss the symptoms that prompted the testing! Ironically, evidence of a Mast Cell Disease was found rather early on in my illness. However, it was dismissed because I did not present with obviously allergic symptoms. A common myth is that a patient MUST present with allergy symptoms or anaphylaxis in order to have a Mast Cell Disease, which is entirely wrong.

Certain symptoms of my illness were present at birth. Most did not begin impacting my life around the age of 11-12 though. For years, my symptoms seemed strictly autonomic and gastrointestinal related. I did not receive my first EpiPen until I was 17. 

Every patient can present differently. Some progress. Some never do. The following symptoms are what I experienced prior to progressing to my current severity, before anaphylaxis and more severe organ involvement. They are what lead to my eventual Mast Cell Activation Syndrome diagnosis. 

  • Nausea
  • Reflux
  • Heartburn
  • Diarrhea (averaging 15x daily w occasional blood) / Alternating Constipation 
  • Abdominal Pain (ache, burning, razor blade sensation in intestines)
  • Unexplained Weightloss
These symptoms, especially the reflux, were the main reason I sought medical treatment. They increasingly got worse over the course of a year. In search to find what was wrong the GI doctor diagnosed me with:
  • Severe GERD
Tests revealed I was in the 95 percentile. GI stated she had never seen a patient with as many reflux episodes. It was unresponsive to a medication regimen.
  • Gastroparesis
Gastric Emptying Study proved severe Gastroparesis with a half time of over five hours. Since then I have had numerous scans: normal, moderate, severe again.
  • Small Bowel Dysmotility
Diagnosed by small bowel follow through. Again, like the Gastroparesis, the slow motility waxes and wanes.
  • Mastocytic Enterocolitis
When I was finally scoped, too many mast cells were found throughout my gastrointestinal tract, especially my colon. GI said she did not know what that meant or how or why it was tested for.

  • Tachycardia
  • Chest Pain
  • Low Blood Pressure
  • Syncope / Presyncope 
  • Palpitations
Structurally, my cardiac tests were in the clear in the very beginning. These symptoms worsened upon standing, which indicated a nervous system issue rather than a true heart problem. The only cardiac test with an abnormality was a stress test with Myocardial Ischemia as the result.

Neurologic / Autonomic 
  • Insomnia
  • Migraine
  • Muscle Weakness
  • Syncope / Presyncope
  • Fatigue
  • Floaters in vision
  • Tremors
  • Lightheadedness
  • Temperature Regulation (random low grade fevers, low temperature)
  • Abnormally dilated eyes
  • Noise / Light Sensitivity
Neurologic tests were frequently vague and inconclusive. EEGs showed partial seizure activity, which we now realize was secondary to the Mast Cell Disease. The fainting was the main indicator of the diagnosis:
  • Dysautonomia / POTS
Diagnosed via Tilt Table Test at the Mayo Clinic in 2010.

My local neurologist, as well as my autonomic specialists, suggested the possibility of a Mitochondrial Disease as the cause for my symptoms. I underwent testing for that with a muscle biopsy, spinal tap. It was negative for Mitochondrial Disease.

  • Itching
  • Flushing - a rarity when first presenting with symptoms
  • Sensitivities to soaps, face masks, etc (redness, extremely mild swelling)
  • Nasal Congestion (pollen season)
Up until my first full blown mast cell reaction, this was the extent of my "allergy" symptoms. In fact, I never once saw an allergist or immunologist. These simple symptoms were deemed nothing but a normal sensitivity. 

  • Hyperventilation 
  • Unintentional Breath Holding
  • "Air hunger" 
  • Dry cough
  • Double breaths / "sobbing breaths"
The majority of these symptoms turned out to be part of Dysautonomia, which is worsened by the Mast Cell Disease. X-RAY shows that my lungs are hyperinflated like an asthmatics, but no history of asthma.

  • High Blood Sugar
  • Low Blood Sugar
  • Fluctuating hormone levels: cortisol, ACTH, etc.
This is a rather tricky category, as the symptoms overlapped and tests inconsistent. I drove endocrinologists insane.

The blood sugar fluctuations significantly interfered with my life. Upon ingesting a trigger food, blood sugars would skyrocket into the 200-300 range. Within minutes they would crash into the 40s - 60s. Sometimes they would fail to increase at all. This also occurred after disconnecting to J tube feeds. I did not realize this was mast cell related until my remission period of late 2014/early 2015 when I had foods that were "safe." I noticed it would only happen if I deviated from my strict diet. Doctors would advise high protein, low carb, low sugar, etc. Their suggestions never led to improvements. In fact, it made it worse if was a trigger food.

  • Joint Dislocations 
  • Bone Pain
These two were attributed to my diagnosis of Ehlers Danlos Syndrome. The bulk of my chronic pain did not stem from the EDS, aside from the dislocations and pain that results from the injuries. The incessant bone pain was caused from mast cell. It partially responded to antihistamine drugs like Benadryl and Doxepin and was exacerbated when flaring from a mast cell trigger.
  • Bladder Pain / UTI Symptoms  (burning, retention, frequency)
  • Enlarged Lymph Nodes
  • Low to Nonexistent Ferritin Levels
  • Anemia 
  • Electrolyte Imbalance 
  • Exercise Intolerance
What is interesting is that each of the secondary diagnoses I accumulated along my diagnosis journey were actually SYMPTOMS of the Mast Cell Disease. And a few of the symptoms that I had attributed the secondary diagnoses derived from mast cell involvement.

Again, I would like to reiterate that the above are symptoms I dealt with to varying degrees since birth or around the age illness effected daily life. Experiencing them is not an affirmation that you will progress as I did. Fortunately, most do not!!