Monday, January 23, 2017

How I Received A Mast Cell Activation Syndrome Diagnosis

Mast Cell Activation Syndrome (MCAS) is a type of Mast Cell Disease characterized by the mast cells in the body inappropriately releasing mediators. In other words, there are generally a normal number of mast cells that "behave badly." They trigger easily, causing the release of chemicals that can make one rather ill. 

With any evidence of a Mast Cell Disease, a doctor's initial thought is to test for Mastocytosis, Mast Cell Activation Syndrome's close counterpart symptom-wise. However, the conditions contrast in the fact that Mastocytosis consists of too many mast cells in the body. They especially differ diagnostically. What is to be done when symptoms persist, yet the Trypase level and bone marrow biopsy rule out Mastocytosis? 


Mast Cell Activation Syndrome is not simple from a diagnostic standpoint. It is ambiguous, with criteria arguable amongst medical professionals. Once full blown Systemic Mastocytosis is disqualified from the list of potential diagnoses, doctors rarely consider testing for Mast Cell Activation Syndrome. And if they do, the testing is often mishandled!

I receive a plethora of inquires regarding my Mast Cell Disease diagnosis. While it is not clear cut, below is an overview of the tests attempted and the tests that contributed to my Mast Cell Activation Syndrome diagnosis.  

24 Urine for N-Methylhistamine and Prostaglandin D2

The 24 hour urines to test mediators are capable of driving a sane patient batty. The point of the test is to measure mediators released by the mast cells over an entire 24-hour period. It is imperative the urine collection is kept at a specific temperature the entire duration of the test. Yes - literally, from voiding in the container, to transport, and to the centrifuge the testing is conducted on! Unfortunately, the 24 hour urine tests frequently reflect false negatives and low levels because of the temperature sensitivities. It is not necessarily a priority for the transport to keep someone's pee at ideal temperature across the country to the lab. 

It is almost comical - the conditions for the 24 hour urine must be so exact and the test so uncommon that doctors do not know that they do not know! The 24 hour urine tests are better completed by a specialist in the disease, as well as near a facility capable of testing for other 24 hour urine mediators, like Leukotrienes.  

I have had the 24 hour urine tests done on numerous occasions. They were mishandled every single time. None were done during my appointment with Dr. Afrin because I already had sufficient confirmation of a Mast Cell Disease. 

Plasma Mediators

Aside from extremely sensitive 24 hour urine tests, mediators can be tested for through plasma (blood) too! Examples are histamine, prostaglandins, heparin, etc. The plasma mediators are not as accurate to diagnose Mast Cell Activation Syndrome as they are for Mastocytosis. This is because the plasma mediators do not test over a full day, only the specific instant the blood was drawn for the lab. There is no guarantee mast cells, normal in number, will release in abundance the exact chemical tested for in that moment. Regardless, they are definitely worth checking when it is an uncomplicated blood draw. Circumstances for the plasma mediator tests are much the same as the urine. Most are rare, sensitive, or can only be done at certain hospitals.
Luckily, there are a few easy ones where that does not apply! I had all of them checked. Antihistamines and steroid medications do not influence their results. 
  • Plasma Histamine
Checked a handful of times, always normal.
  • Chromogranin A
This is less common and if abnormal, can be indicative of neuroendocrine tumors. Before pawning the abnormality off on a Mast Cell Disease, other causes should be eliminated. My level was positive, but not significantly so - just one above normal.
  • Tryptase
Oh, the infamous Tryptase level, which doctors view as the holy grail of Mast Cell Disease tests. Mine is a measly 2. My level has been tested for off of all medications, on medications, not reacting, when mildly reacting, and in anaphylaxis. It has not deviated from a 2.

  • Plasma Prostaglandin D2
Plasma Prostaglandin D2 was immensely helpful for my diagnosis. I was told I had the highest plasma level the specialist has ever seen in a MCAS patient.

PGD2 Level of 1,738 With a 35 to 115 Reference Range
Miscellaneous Blood Labs
  • Basic Metabolic Panel + Complete Blood Count
  • Quantitative Immunoglobulins
Mast Cell Disease can cause immune issues, the abnormalities reflecting in the IgG, IgA, IgM levels. My IgG is low in subclasses 1 and 3.
  • IgE
Mast Cell Diseases are not "true" IgE allergies, but IgE does play a role. My IgE is intermittently elevated.
  • Allergy Panel
Again, a Mast Cell Disease is technically not a true allergy; although, secondary allergies can develop or contribute additional symptoms. I have no true allergies besides Bahia Grass and 2 types of dust mites. I should also add that the skin allergy testing is not recommended for those with a potential Mast Cell Disease. It can lead to false positives, showing an allergy to a food, environmental factor, etc when it is really a reaction to the fillers/preservatives in what is used for the test.
  • Urticaria Panel 3
The Urticaria panel indicates an auto-immune component to the Mast Cell Disease. Mine is positive.
  • Positive Antibodies
While discussing the realm of autoimmunity influenced by Mast Cell Disease, various antibodies can be thrown off enough to indicate a problem, but not in the amounts to receive an autoimmune diagnosis. These antibodies wax and wane, going from normal, abnormal, to normal again. As it was explained to me, Mast Cell Activation can bring along the "autoimmune cousins" as comorbidities. It can also mimic other illnesses.

I have antibodies against IgE, striated muscle, thyroid, and the folate receptor (checked via spinal tap). The latter lending the diagnosis of Cerebral Folate Deficiency. This is interesting because I do not portray symptoms of Cerebral Folate Deficiency and I did not respond to treatment. Additionally, Mast Cell Activation Syndrome has mimicked Type One Diabetes through labs, producing almost no insulin at times, but with low blood sugars occurring more often than high.


  • C-KIT D816V
C-KIT is a common mutation found via bone marrow or blood test and is common in those with Mastocytosis, not necessarily Mast Cell Activation Syndrome. Both of mine were normal.

Bone Marrow, Skin, or Other Organ Biopsy

The primary method of diagnosing Mastocytosis is via biopsy. Findings show an increased number of mast cells when stained using Tryptase, etc. While not blatantly obvious, a biopsy can sometimes prove Mast Cell Activation Syndrome. There are occasionally mild increases in mast cells that are normal in appearance if stained appropriately or if positive for CD25, CD2, CD117 and not all Mastocytosis criteria is met. If not bone marrow, the same can be done for biopsies of other organs (i.e. - skin, stomach, small bowel, colon, etc). 

Unfortunately, my bone marrow biopsy was flubbed up, despite the specialist giving explicit directions. The main indicator of my Mast Cell Disease was found in a colonoscopy (at a different hospital than the bone marrow biopsy) in 2010. They did not complete the stains that normally reveal Mast Cell Activation Syndrome, only Mastocytosis, but through a miracle, a Tryptase staining did show an increased number of mast cells in my intestines. These results were dismissed for years. The GI doctor claimed she did not know what it meant or how/why it was tested for. During childhood I had a lymph node gone rogue removed that was mast cell related too. To contribute to the diagnosis, my mother displays skin spots very similar to mine. Upon her skin biopsy, it showed an increase in mast cell numbers there. 

It took years to obtain a diagnosis, hindering treatment. Between biopsies, positive labs, family history, symptoms and symptom response, I received a diagnosis of Mast Cell Activation Syndrome. 

If you believe you might have Mast Cell Activation Syndrome, be proactive in your assertions. The testing is complex, difficult to perform, and can take multiple attempts even with a specialist in the condition. 

More Information regarding special stains for Mast Cell Activation Syndrome, tests, etc can be found in this PDF