Some of this is a repost of another thread, but I’ve added updated info throughout.
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It seems that many people still refer to all aspects of Mast Cell Disease as Mast Cell Activation Syndrome. But to my understanding, MCAS is based upon allergic reactions triggering Mast Cell release.
My docs have diagnosed me with
Systemic Mastocytosis as opposed to Cutaneous Mastocytosis, Mast Cell Activation Syndrome, or Hereditary alpha-tryptasemia. I was also told that out of the 5 Mast Cell subtypes, only two or three (I forget) can actually be tested for.
In July I went through a number of new tests, for me that is. I was having horrible “allergy” symptoms since late April. In the past number of years, my supposed “allergy” symptoms have been increasing in severity and duration, as well as would spontaneously flair up at anytime during the year, including the dead of winter. So, my main doctor referred me to the only allergy clinic in the state for testing.
I’ve had food allergy testing done before and know what foods are actual allergens, but my environmental panels always showed negative. I’m also allergic to many medications.
At the end of June, I had the full back skin grid done and every box turned out Negative. I was having “allergy” symptoms and yet the test showed I had zero environmental allergies, just like every time before in the past 12 years.
So, the allergist sent me to the lab for blood tests and a 24-hour urine collection test. He said he doubts I have this, but there is a very rare condition known as Mast Cell Disease, of which there are a few variations. He wanted to test me simply to rule it out. To his surprise, it came back Positive.
The following tests were run:
- NMO/AQP4 FACS, S
- Sed Rate
- C-Reactive Protein
- Leukotriene E4, U
- N-Methylhistamine, 24 Hr
- Tryptase, S
- Prostaglandin D2 (PGD2)
- KIT D816V Variant Analysis Quant, V
These came back as flagged and abnormal:
-N-Methylhistamine, 24 Hr came back high.
Normal range: 30 - 200 mcg/g Cr
Mine tested at 250
-Leukotriene E4, U came back high.
Normal value is less than 104
Mine tested at 184.
-2,3-dinor 11B-Prostaglandin F2a
Normal value: <1802 pg/mg Cr
Mine tested at 2001
The Gene Variation test came back negative.
After multiple visits with three doctors in my healthcare team, based on all my symptoms, history, and test results they have confirmed a diagnosis of
Systemic Mastocytosis as opposed to Cutaneous Mastocytosis, Mast Cell Activation Syndrome, or Hereditary alpha-tryptasemia.
Since July I have been on:
- Fexofenadine – 180 mg 4x per day (2 in am and 2 in pm)
- Montelukast – 10 mg daily in morning – this is a Leukotriene blocker
- Famotidine – 40 mg in pm
Some of my “histamine-like” symptoms have decreased. Nasal, sinus, eye, skin, and ear itching have decreased by probably 90%. Insomnia is almost non-existent, and before it was nightly. My moods have increased as has libido… both are reliant upon dopamine levels, and my neurotransmitter tests (3 in the last 8 months), have consistently shown almost no dopamine, epinephrin or norepinephrine production… and HISTAMINE competes with and overrides Dopamine. So, that tracks.
Respiratory inflammation has remained the same, sadly.
As to my vision – I remain blind in the left eye and my right eye still has severe depressed vision capacity. My ophthalmologist wrote in my file:
…”has severe depressed vision, chronic. Left eye has NO usable vision. Possible vision return, unknown. Right eye has depressed peripheral vision of less than 40 degrees, depressed frontal vision, and at best is sometimes correctable to 20-40, but only when sitting or lying down at rest, not while standing or active. Much of the time though visual acuity is 20-850 with 20-200 being legally blind. Even with better acuity days the eye is prone to grey-outs, blur-outs, wavy underwater vision, double and triple vision. Mr… is and must be considered legally blind.
“Mr… has a remarkable ability to self-navigate and mostly normal function in his daily life
with such levels of depressed and absent vision. It is truly impressive to witness.”
On Thursday morning, August 28th, I had the worst GER (Gastroesophageal reflux) attack I’ve ever experienced!!! It was fucking horrific! Lasted a solid 3 hours. The pain was intense, easy a level 8, and I couldn’t even swallow spit. It felt as though there were an iron claw full of spikes crushing, twisting, and wrenching my lower esophagus that radiated throughout my entire torso. My wife thought she was going to have to bring me to the ER. My hands went completely numb from the body stress. My vision left to where I couldn’t see anything at all.
In the past year and a half, I’ve had a few small GER attacks that would last maybe 10 minutes. I didn’t even know what they were they were so mild and short lived. This year in late spring I had the first ever that lasted 30 minutes, but its intensity was ¼ of this one.
My one doctor said one of the most common symptoms with systemic mastocytosis are digestive. The time frame of the GER fits with the rise or development of the systemic mastocytosis, of which I was recently diagnosed with last month.
All day I was only able to eat a mashed mini cucumber with banana. Couldn’t stomach any of my medications or vitamins. All day I was brutally exhausted and spaced out. Respiratory system was also compromised, still. Body temp plummeted and I was chilled all day.
Slept the night through but was dehydrated.
Since then I have been exhausted, fatigued, burned out, spaced out and weak like I had the flu for a couple weeks. I’m trying to manage very small amounts of bland easy to digest foods; oats with pork gelatin, baby carrots, cucumber, banana, bok choy, weak herb tea, water… and if I eat really slow and just small amounts, I can stomach it. Afterward I do feel a hot slightly acidic feeling in my gullet though. Probably because my esophagus is swollen and healing from the chemical burn.
In the past 6 days I’ve lost 10 pounds. I stand 6 feet and typically weight 170 pounds.
I had an acupuncture treatment the day before the GER attack. That was the first acupuncture treatment in over a year and my healthcare team says it triggered a systemic mastocytosis episode, which gave rise to the GER attack the day after.
For me my healthcare team says the systemic mastocytosis seems to release mast cells that have mostly attack my entire respiratory system; lungs, bronchi, nasal passages, and sinuses. And now it seems to have expanded to my upper GI system and some regions of the skin.
On September 16th I have aa consult with my head doctor to pick his brain about all this. Though I've been living with this seemingly for years, the awareness of it and all that it encompasses is completely new to me.
As of this time my medically diagnosed conditions. All but one was diagnosed after specific testing and or images confirmed the conditions existence.
- Severe Visual Handicap - neurologically caused
- Hearing Loss
- Dysautonomia/Postural Orthostatic Tachycardia Syndrome (POTS)
- Myalgic Encephalomyelitis (diagnosed by 3 doctors but of course no verifiable diagnostic test)
- Post-Exertional Malaise (PEM)
- Post-Exertional Encephalitis (swelling of spinal cord after exertion)
- Hypothyroidism
- Hashimoto’s Disease
- Neurotransmitter Dysfunction – Dopaminergic pathways
- Chronic Complex PTSD – childhood abusive cult, torture, and combat related
- Systemic Mastocytosis
, but because even that i put a good few hours into research, still there are no straighforward diagnostic route, so depending on the article/opinion you can get contradicted answers.
