Mast Cell Disorders Forum - C Kit Mutation Analysis - I Thought This Involved a Biopsy?

Futurehope

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C Kit Mutation Analysis - I Thought This Involved a Biopsy?
11/22/14 at 09:10:53

I had some blood work done by my mast cell doctor yesterday. One of my tests was a "C KIT Mutation Analysis". I thought the gold standard for diagnosing systemic masto was a bone marrow biopsy in which the cells can be viewed under a microscope?

Why was I told that my blood test would be the gold standard for diagnosing mast?

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Spartako Tutor Offline I Love YaBB 2! Posts: 58	Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy? Reply #1 - 11/23/14 at 12:00:28 Bone Marrow Biopsy ist now only done if tryptase rises above 30ng/ml. Because if it is lower there is no difference in treatment between MCAS and SM.
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Futurehope Mentor Offline Posts: 357 Clermont, Florida	Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy? Reply #2 - 11/24/14 at 01:48:29 Thanks a lot for the answer. I am glad I do not need the bone marrow biopsy.
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mountain girl

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #3 - 12/22/14 at 02:57:31

I just saw Castells. She said they can now test for C-kit in peripheral blood. As if it was a relatively new development. 25% of people with systemic mastocytosis do not have elevated tryptase levels. I don't have my results yet. I didn't think to ask at my appointment if you get a positive c kit, would that mean you need a BMB. But she did tell me that I could have a BMB at home and just send the slides to them. So I guess it must be a possibility. My typtase has never been higher than 2.

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Futurehope Mentor Offline Posts: 357 Clermont, Florida	Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy? Reply #4 - 01/06/15 at 10:55:20 Update: My peripheral blood C-kit analysis is negative for mutations for systemic masto or any other item tested for. My tryptase when checked recently, was 5.0. It used to be 4.5. So, I'm not really sure what to make of this except that I do not have Systemic Mastocytosis.
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Lisa

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #5 - 01/07/15 at 04:23:53

Systemic Masto it doesn´t appear to be, you´re right, but that doesn´t rule out MCAS in one form or another. And with a tryptase of 5.0, ruling out the other few things which can raise tryptase above 1.0ng, then with the clinical symptoms you have this would confirm MCAS.

Remember MCAS can be a dumping ground diagnosis for those who don´t quite meet the criteria for SM and for those who have nc-MCAS

Lisa

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Don´t forget, there is so much more to life than being sick!

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Futurehope Mentor Offline Posts: 357 Clermont, Florida	Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy? Reply #6 - 01/16/15 at 05:57:23 Thanks a bunch, Lisa. I guess I have MCAS. BTW, what is nc-MCAS? Does that have anything to do with clonal and non-clonal by any chance?
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mountain girl

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #7 - 02/12/15 at 05:54:10

Yes, I would think she means non clonial.

But, I was reading up on the blood cKit test and saw that it is not as sensitive as a BMB cKit test. I am still waiting on a call back regarding my negative blood cKit, and will let you know what I learn. I am wondering if Dr. castells just started with the blood cKit because it is less invasive, hoping we could skip the BMB.

After reviewing my presentation of symptoms it looks like Masto. (I was thinking MCAS for a long time.) Have you seen Dr. Castells video? It is really helpful in steering you towards a diagnosis. Pay attention to the part where she talks about MCAS presenting with specific symptoms..I cant remember them all but flushing was one.

https://www.youtube.com/watch?v=JdbkviPUmg4

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Futurehope

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #8 - 02/14/15 at 11:52:26

Hi, Mountain Girl.

I've seen that video. I believe I have a "secondary" mast cell activation syndrome. I have Postural Orthostatic Tachycardia, which means if I am sitting or standing, my nervous system does not adjust my blood pressure and heart rate effectively, and I get symptoms similar to not getting enough blood up into my brain (like having hypoxia symptoms). I believe this stressor (of not effectively handling vertical posture), is causing my mast cells to degranulate. Also, I have some sort of allergic or sensitivity reactions in my gut all the time, which cause mast cell degranulation.

Up until now, no doctor has addressed either the POTS or the sensitive gut problems enough to stabilize me. Cromolyn sodium causes severe heartburn.

I have one more visit to my GI doc this week, but I am not really expecting any help, since doctors cannot fix these two problems.

I hope you eventually get an accurate diagnosis. Maybe you do have SM.

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Britt

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #9 - 02/14/15 at 13:47:24

Futurehope~
Do you mind expaining POTS symptoms to me? I've googled it, but don't really understand.
What is the connection between POTS and mast cell disorder?

Pj123~ your symtoms sound a lot like what in going through. I have been having severe vertigo, feeling like I'm in a boat and depth perception is way off since mud December. The doctors wants to rule out brain tumors, but says if that's not it, it's likely Ménière's disease; but as I read your and futurehopes posts, I'm wondering if it could be something else?

The thing is, for the past two months, I can tell that the issue is coming from my left ear (intermintent pain, muffled hearing, popping sound in ear, ear feeling clogged) but as of a few days ago, my right ear is hurting now too Cry

I don't have all the symptoms in my right ear as in my left, just the quick sharp pain like an earache and the popping noise, especially when I move my jaw. Have also been having jaw tighteness and pain.

Has anyone had anything like this happen to them?
Any thoughts? Undecided

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« Last Edit: 02/15/15 at 07:27:25 by Britt »

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PJP123

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #10 - 02/15/15 at 04:03:05

@Futurehope,

I have your symptoms too. I was diagnosed with Neurocardogenic Syncope type Dysautonomia, (but went in to doctor saying I believe I have POTS). I can't stand up to do much of anything.

I had the c-kit blood test too and was told it was negative, but on 23andme genetic testing I have 3 homozygous SNPs. When I downloaded my report to LIVEWELLO it said that I had a high chance of having piebaldism which is the inactivating c-kit as opposed to the activating c-kit of mastocytosis.

When I got really sick 2008 my skin starting changing color (poikoloderma) , and the flushing, itching, GERD, bone pain, constipation, stomach tremors, food allergies, allergic to life basically LOL.

I went to a mast cell specialist and she ran all these tests and nothing red flag is showing up. She wants my colonoscopy slides from 3 years ago (which I was told they don't keep by the doctor, but haven't tried to speak to lab yet)

3 years ago my tryptase was 6 and now it's 3. She said that that is a margin of error to be expected and doesn't prove anything.

I have the autoimmune element to all of this and read that their is an autoimmune dysautonomia.

I have severed tinnitus and it's driving me crazy.

My bone pain is bad in the long bones of thighs.

I feel like stopping all the drugs, eating right, exercising (have 0 tolerance, can't even walk around the block). I have always been correct weight for height and can eat like a linebacker, but absolutely cannot muster the energy to do anything physical.

I am also being treated with Plaquenil because I had a positive ANA and anti-ds DNA, but it's not Lupus, per 2 rheumatologists.

Neurologically I can't think straight and have tunnelvision. I just want to know what the heck this weird disease is...... and I think I'm okay with not getting better, but am sick of trying to figure it out.

I read there are familial cases of cutaneous mastocytosis with no c-kit mutation showing up.

Let's keep plugging along helping each other find the next direction to go in to get a diagnosis!

PJ

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Futurehope

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Re: C Kit Mutation Analysis - I Thought This Involved a Biopsy?
Reply #11 - 02/18/15 at 02:47:14

@LEFTY

Officially, Postural Orthostatic Tachycardia is defined as a heartrate that increases 30 beats per minute when vertical over the heartrate you had when supine (lying down). Officially, this test is done with a tilt table.

Unofficially, the "easy test" can be done by taking your heartrate while sitting, and then after you've stood for a few minutes. This would show how your heartrate and blood pressure adjusted to change in posture.

In day to day life, having POTS really means much more than "increased heartrate response to upright posture". You can be frequently dizzy, have gastrointestinal problems, feel headachey, sick, sensitive (in a bad way) to many medicines and substances [the POTS/MCAS connection?], weak, fatigued, unable to think clearly....and I'm sure I've forgotten some possible symptoms. Your ability to live life can be drastically impacted.

It is my opinion after years of having POTS and more recently the diagnosis of Mast Cell Activity Syndrome, that my POTS is the primary trigger (along with food sensitivites), of my mast cells. My most recent GI doc says there is a connection between POTS and MCAS, but not enough is known about the connection yet. I can feel the reactions happening in my body as I struggle to adjust to upright posture. I realize the stress that travel puts on my entire body, as well as the stress of sitting in doctors' offices awaiting my appointments. I know what my reactions can be. My digestion gets affected. I am overly fatigued, basically exhausted. I can go on and on, but that's it in a nutshell.

My conclusion: In my case, medicine has not come up with effective helps for any of my medical conditions.

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« Last Edit: 02/18/15 at 11:10:53 by Futurehope »

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