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http://mastcelldisorders.wallack.us/yabb/YaBB.pl General Mast Cell Disorders Discussion >> General Mast Cell Disorder Discussion >> Tryptase question http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1310419271 Message started by Patricia on 07/11/11 at 10:21:11

Title: Tryptase question
Post by Patricia on 07/11/11 at 10:21:11

Just wondering if anyone knows why my daughters tryptase is 18, IgE 1650, ANA 1.2 but her histamine is urine is normal...

Does this mean that her mast cells aren't degranualting? But then why would her tryptase be elevated? Isnt tryptase an ingredient in a mast cell?
Currently she has no symptoms, very healthy ect. She does have an anaphylactic peanut allergy.

Title: Re: Tryptase question
Post by Lisa on 07/11/11 at 10:45:16

Hi Patricia,

Unfortunately a tryptase of 18 is indeed indicative of a mast cell disorder. What form is the question. The lack of symptoms doesn't remove the suspicion for the disease either. My son who is 20 has no masto symptoms and his tryptase is 2.6, however we have found a MC aggregate in his intestines. Only masto will cause that aggregation of mast cells! It's masto but most likely in my own form which does not have a high tryptase level. A "normal" tryptase with a health person doesn't rise above 0.9ng/mL. However, there are other conditions which will raise the tryptase, but anything as high as 20ng/mL or higher is considered diagnostic for the classic form of Systemic Mastocytosis. The typtase is considered a marker for the mast cell burden, or in other words, the number of neoplastic mast cells a person has.

But the trick here is that depending upon the form or the maturity of the disease, you will not see high tryptase or even other mediators being released. It's a very tricky disease to diagnose!

I hope this helps!

Lisa

Title: Re: Tryptase question
Post by Patricia on 07/11/11 at 14:25:03

Thank you! It's so tricky and very confusing!

My older daughters tryptase is 28, IgE 350 neg ANA but I haven't checked her histamine or prostoglandins in urine yet. She's slowly getting more symptoms and does have relief with antihistamines ect but she doesn't watch her diet as much as she should, burns the midnight oil. She's also 21 and a senior in college so it's hard to monitor her lifestyle.

The only good thing (i use this loosely because it stinks) about having a peanut allergy is that my youngest daughter has to be really careful about what she eats and 70% of junk food has peanuts so she tends to eat much better than the older one.

It's just scary because the older daughter has a higher tryptase level than my husband and he's non functioning. I would hate for this to happen to them. my lifes mission is to fix my husband and to save them from the same fate. At times I feel like I'm training for ironman because I know I have a battle ahead of me!
Thank you again!!!

Title: Re: Tryptase question
Post by NZNancy on 07/11/11 at 14:47:34

Lisa, may I bring you up to date with the diagnostic criteria for systemic mastocytosis? It is actually very clear and easy to diagnose, thanks to the international group of specialists who have agreed that the following criteria do not miss someone who actually has systemic mastocytosis, and they do not give the diagnosis incorrectly to someone who does not have systemic mastocytosis.

The Major Criterion:
Biopsy finding of multiple dense accumulation of mast cells in bone marrow or in other non-skin tissue

The Minor Criteria:
1. In bone marrow biopsy, more than 25% of the mast cells are spindle-shaped (elongated); or in bone marrow aspirate smears, more than 25% of the mast cells are non-typical mast cells.

2. Detection of a point mutation at codon 816 in the kit receptor gene. This may be found in bone marrow or blood or other internal organ.

3. Mast cells in bone marrow, blood, or other internal organs are found to have on their surface the kit receptor plus molecules called CD2 and/or CD25.

4. Serum total tryptase level persistently greater than 20ng/ml. This criterion cannot be used if the patient has a clonal, non-mast cell associated hematologic disorder.

Now - if a patient has the major criterion plus ONE minor criterion, the diagnosis is systemic mastocytosis; or if the patient has three minor criteria, the diagnostic is systemic mastocytosis.

It's that simple, and it is important that a person having a bone marrow biopsy for diagnosis of systemic mastocytosis go to one of the centers where the special staining is done, that is, one of the mast cell specialist centers.

Title: Re: Tryptase question
Post by Lisa on 07/11/11 at 15:00:04

Patricia,

I know EXACTLY how you feel for I too am facing the exact same thing! Once Dr. Basson, the cardiologist geneticist who is working with my family about these aortic aneurysms, raised his suspicions that my ENTIRE family has this genetic defect of the aneurysms, it put me into high gear! I've got doctor appointments set up and I'm going to be asking for a number of exams trying to see what we can find.

Yet, here's the situation, Pat, although we can find out what is wrong, there is no way to fix it. This is a situation which is difficult for our minds to accept for our minds are trained to think that if we kiss the boo boo, it will get better. I say it in this way for this training comes from our infancy and so because our bodies have always responded in this manner, we truly believe that this is how it's supposed to be. It's a very difficult thing to accept that this time the magic kiss isn't going to do the trick.

Yet, I do understand what you're trying to say here in that if you can get your husband better, then you can find energy to deal with your kids. It doesn't quite work this way, Pat, cause with your daughter's tryptase at that level she's already got one of the diagnostic criteria filled for Systemic mastocytosis.

Yet, Pat, I think that you might be able to take advantage of her measurement and work with ALL THREE at one time. The tryptase levels of your girls is enough proven mast cell activation that you could set up an appointment with Dr. Castells or Dr. Akin in Boston and take your husband to see them too. I'm sure they don't get too many full fledged families and I think that if you were to write to Dr. Akin or Dr. Castellsa and describe what is going on and tell them about each one of your family that these doctors would be more than happy to see you. They have some workup requirements before you can see them, but they do this in order to weed out patients who are just plain allergic, etc. They're underequipped doctor wise and they've had to do this, unfortunately, but what they do require is some kind of proven mast cell activation. The tryptase levels of both of your girls cinches that for you.

So, please consider writing to both doctors, asking them to see all three of your family so that you can gain some answers and real treatment!! It would be definitely worth the trip!!

Lisa

Title: Re: Tryptase question
Post by Patricia on 07/11/11 at 15:01:42

Ok but how do you know if you have a colonal or noncolonal?
or I guess I should read up on the differenc I always get confused.

My husband BMB neg but his kit gene had mutations just not the CD8 or CD25...NIH is further testing the kit gene but don't have results back.
He was only finally confirmed as MCAD through a urine histamine at NIH and prostoglandins at BW (I don't think NIH tests prostoglandins, yes crazy).

My sister in law who lives in Italy and went to a mast cell center in pavia has a tryptase 20, IgE 150, hashimotos, raynauds...is very symptomatic and has gone into shock before, can only eat certain foods, joint pain, ect..had her BMB done and it was neg and they told her to go on her merry way without giving her any antihistamines, told to only get her tryptase checked if she ended up in the ER. Doesn't that sound crazy.

My husand was diagnosed in swiss by only having a trypatse blood test that came back at 25.

I heard that in France they dagnose MCAD or mastocytosis by a questionnaire!!!! Doesn't that seem even more astounding. I can barely get the dx at NIH to say MCAD and only after months of testing did they confirm the diagnosis.

It just seems unbelievable at how there are different ways to diagnose, treat ect from country to country...I guess this why it's so confusing.

Title: Re: Tryptase question
Post by NZNancy on 07/11/11 at 15:04:05

Patricia, since you are the one who asked the question, the presence or absence of histamine in urine or blood does not matter one way or another in diagnosing any kind of mastocytosis. Your older daughter could have a bone marrow biopsy to make certain of her diagnosis; sometimes people forego that procedure and assume their diagnosis is SM based on symptoms and the elevated baseline tryptase level (that means the tryptase level when blood is drawn at a time of mild or no symptoms). That's fine unless they develop an abnormal blood cell count of some sort, and then it may be time to check with the blood cell-making machine to see what is going on in there!

Nothing you do in the way of treatment, and nothing your daughter does in the way of diet, will have an effect on the future of mastocytosis. These factors make one more comfortable, but apparently have nothing to do with how severe the disease itself becomes.

At that age, it has to be her decision to take the right meds correctly and to avoid foods that are triggers. She'll get there, I imagine, because she will feel better when she gets it right.

One other point, the level of tryptase has NO association with the severity of symptoms. How severe the symptoms are is related to how reactive the person's mast cells are, which is determined by the genes the person inherits and how well or poorly they manage their exposures to triggers.

Title: Re: Tryptase question
Post by Patricia on 07/11/11 at 15:26:27

Thank you so much for your responses! It always amazes me at how you can learn something new everyday about this disease.

We saw dr Castells and dr Greenberger in Feb and were absolutely blown away! They gave us hope and have called or emailed me with minutes and I really feel a lot better now that I know I have a team of dx that kick ass!!! Made a huge difference! I was going to take my daughters up this summer but NIH asked them to participate in a physical hives study in august and figured I'd have NIH do more testing and genetic studies. Then after those results take them to Boston and at least have dr Castells meet them and start following them.

I realize I can't fix my husband and he will never be the same but I will learn as much as possible and will keep digging, searching. I don't expect perfection but I just want to make sure he gets better and not worse. Or that we are doing everything possible for him to be going in the right direction. At this point I would stick needles through my eyes if I thought it would help him.

What really makes me mad about this disease is that it never goes away. You get those couple hours and maybe a day when he feels better and then something happens and boom reactions. Or he got a cold and for 2 weeks the masto monster was back...full force...GI, rashes, swollen glands, mood swings, brain fog, cognitive issues, depression, pain, flushing, exhaustion. It ws really scary to me at how the masto monster had remerged!

I jokingly told Dr Wilson at NIH that if he doesn't find me a cure he could at least find a husband for one of my daughters to marry , soeone in allergies/immunology with a specialization in mast cells and perfect DNA, that way I won't have to bother them anymore.

Thanks again!

Title: Re: Tryptase question
Post by Patricia on 07/11/11 at 15:28:37

Oh we also found out that my father in law has tryptase 55, hashimotots and is a colon cancer survivor. My sister in law had the elevated tryptase 20 as well as her son tryptase 20, IgE 150. Her daughter did not have an elevated tryptase just slightly elevated ige's.

Title: Re: Tryptase question
Post by NZNancy on 07/11/11 at 18:23:19

Patricia, I'm so glad you have had Dr. Castells and Dr. Greenberger see you. It sounds like a good choice to have NIH do the testing on your daughters. They will be interested in the familial aspect, also.
Did Dr. Castells agree with a diagnosis of SM, or of MCAS?

Did your husband's mast cells have CD25 on the surface? And you are still waiting for information on kit mutations. If your husband has either of these, then his mast cell disease diagnosis is either Systemic mastocytosis or "monoclonal mast cell activation disorder" (MMAD). This is a diagnosis that is just recently discovered, and it explains some people who do not have increased number of bone marrow mast cells but still look like they have mastocytosis.

Have you tried increasing your husband's meds when he is sick? Both bacteria and viruses can activate mast cells, and if he had a fever, that would have been dehydrating, which also activates mast cells.

Have you tried keeping a diary of your husband's exposures, activities, and medications each day? That can help sort out triggers, since some things such as food may not cause symptoms until the next day.

Title: Re: Tryptase question
Post by DeborahW, Founder on 07/12/11 at 00:44:54

Patricia,

I wanted to comment on your statement that you can't fix your husband and that he is stuck with always feeling poorly except for a feww hours each day. It really doesn't have to be that way! With the right meds and knowledge of identifying and avoiding triggers, things can be very different. While I don't have Masto (I am diagnosed with Idiopathic
Anaphylaxis), I am now at my healthiest state ever. I feel great most of the time and seem to get better each year! Now I don't feel great like a normal person, because I am slightly fatigued all the time (presumably from the massive amounts of histamine blockers I take each day). However, ignoring the slight lack of energy, I feel very well. I am careful to avoid triggers, and I know that helps a lot. Since I was originally so sick and bedridden (and shocking) all the time, this is a vast improvement.

So, you see, anything is possible and your husband may, indeed, be able to improve dramatically with the correct meds and avoidance of triggers.

Title: Re: Tryptase question
Post by Patricia on 07/12/11 at 04:14:54

Ok maybe the word fix was a wrong choice and I should have used stabilize or manage because I know it won't ever go away. But I feel like the minute he gets a rash or starts reacting we have to address the situation ASAP because it won't just go away or subside it will just get worse!

My husband is doing so much better than last yr where he didn't get out of bed for months and was miserable. He continues to have this weird joint pain that never goes away, he's on aspirin for his prostoglandins and that doesn't help and I'm worried about damage to his stomach. I just want to make sure his joint problems don't get worse.

His exhaustion could be from the mast cell stuff or is it hashimotos, maybe both. I want to make sure I'm doing everything possible so that his tyroid hormones are properly regulated. Conventional dxs only give you levoxyl but there's the whole T4/T3 stuff that they never address.

I'm not sure what's going on with that Kit gene study but I know Dr Wilson said he's still waiting for them further study it.

I have the whole elevated IgE situation that no one really knows why it fluctuates between 9,000 and 15,000...I always thought that was from the MCAD but its praobly a different autoimmune thing...his stat3 gene was not mutated for hyper IgE syndrome so Genome is sequencing his whole DNA to see if there's a new mutation...but this is going to take over a year yo finish.

For months this forum was my lifeline...I remember when I first read some posts and thought "oh that won't happen to us, thats not his situation" well practically everything on this forum has happened to him. From reactions, crazy anwers from dxs, ER visits where they'd tell us he just had a fainting spell, the emotional roller coaster, realizing that I might not get an answer. This forum has taught me so much, to be empowered as a caretaker, go with my gut and most of all I don't feel so alone and helpless!

I only doubled my husabnds meds because people on here where taking more than him...almost after the first dose he immediately felt better. We only went to Boston because I finally read Deborahs own story and figured we should make the effort to go...best decision we ever made!!!

I wish there was a magic pill or I could just kiss it and make it better. I feel like 30% is having the right dxs, 30% is having the right meds, and the rest has to come from you as far as lifestyle, foods you eat, minimizing stress, controlling your emotions, environmental toxins, adequate sleep ect...trying to control this extreme heat is really hard...it's 106 today and humid!

This has changed our lives forever but I refuse to let it ruin my life...I will grow from this, I don't take anything for granted and it's made me love my husband in the most profound way...so there are some positive aspects...it's taken me a year of complete misery, pain and feeling like I was having a constant panic attack to get to this point! :)

Thank you all for sharing your stories and helping to educate people like me!

Title: Re: Tryptase question
Post by Patricia on 07/12/11 at 05:34:27

Nancy, Im pretty sure he's been diagnosed with MCAD. Even though he had a neg BMB dr Castells questioned it because she describd it like fishing down a river and trying to catch these mast cells, if they didn't get any or a good sample it might not be accurate. I'd always thought there would be a yes masto or no masto answer. I didn't even realize there was the whole MCAD, IA or other forms. Im not even concerned about the technical term anymore I just know his mast cells are activated or degranulating.

Then to confuse us even more there's the hashimotots and the over active immune system producing so many IgE's for unknown reasons. We are in a bit of a holding pattern right now until all the gene studies come back and see if that can shed some light on what's really going on.

I do keep a diary with all his symptoms, meds that we adjust, food and rx reactions ect...it was actually encouraging to go back and read to see how sick he was and how far he's come!

Title: Re: Tryptase question
Post by LauraJ on 07/17/11 at 06:38:07

Could anyone tell me how I can find out where the special centers for diagnosis are located. Thanks

Title: Re: Tryptase question
Post by Patricia on 07/17/11 at 06:52:09

Bringhams and women's in Boston and if you go on the mastocytosis society web site i believe they have a list of doctors ect
Where are you located?

Title: Re: Tryptase question
Post by TinCanOnAString on 08/09/11 at 11:49:54

So, I got my results from last week's blood tests back from the hematologist. My histamine level was actually pretty low (1.5), but my tryptase level was high (87). I can only assume that this is my baseline, as I was experiencing no symptoms whatsoever at the time of the test. I was even having a relatively itch-free day, a rare event in the last ten years.

I didn't want to hijack Patricia's thread, but this is the best topic of tryptase levels I could find. My confusion is this: I understand that high tryptase levels are associated with anaphylaxis, but I've never experienced any type of anaphylactic shock of any sort. I expected, with my constant itchiness, that my results would be reversed; high histamine with normal or slightly elevated tryptase. Any ideas?

Also, does anyone know if there's a thread here, or anywhere, with various test results that would indicate masto or help people understand their conditions better? I'm trying to find some comparison to my levels to see where I stand, but I'm having trouble getting anywhere. Any help would be appreciated.

Title: Re: Tryptase question
Post by Patricia on 08/09/11 at 12:06:01

Wow that is high but I can tell you my father in law is 55 and he has no known experiences of shock and is 78, he found out his tryptase was 55 this winter. Some allergies, hashimotos, RA and colon cancer at 70. My youngest daughter (15) has a tryptase of 20 and her urine histamine levels where in the normal range.

Have you had your prostoglandins checked, that is done through urine and also another ingredient degranulated from mast cells.

A Bone Marrow biopsy is the gold standard for ruling out mastocytosis but its really important who does it and where, make sure its someone who is experienced in doing BMB for mast cells.

Besides all the itching do you have any other symptoms and what medications did the doctor recommend you take.

Title: Re: Tryptase question
Post by Starflower on 08/09/11 at 13:28:26

A tryptase of 87 is a solid indicator of systemic mastocytosis... it would be a good idea to get a bone marrow biopsy. It could be a lot worse though! People with aggressive mastocytosis (which needs to be treated with chemotherapy drugs) typically have much higher tryptase levels.

The one thing you can't do with a baseline tryptase is tell whether you're a "shocker" or not. My tryptase level is only 5.6, but I've gone into anaphylaxis many, many times. Although you should have a Rx for an EpiPen and keep one with you at all times, it's quite possible that you'll never have an episode of anaphylaxis :)

Heather

Title: Re: Tryptase question
Post by TinCanOnAString on 08/09/11 at 14:10:27

I thought it sounded really high, too. As far as other symptoms, I'm covered in spots, head-to-toe. I suspect UP. They raise into hives when scratched and itch constantly (so they're always being scratched).

Systemically, I've had ridiculous reflux for the past 5 years (controlled with 2x daily Pepcid Complete until recently). I've also noticed some gastrointestinal issues recently, but nothing major and I've seen no connection to any type of triggers, so I can't even say these issues (and really, it's a stretch to call them issues) are connected to masto. Beyond that, I'm basically symptom free on the inside.

Oh, I almost forgot. In the last month, something strange has been happening with my fingertips. Over the course of about two weeks, the tips and area immediately under the nail get hard and desensitized. The skin thickens and then starts to crack. The hard skin then peels away...okay, I cut it off with nail clippers as it flakes. The new skin underneath is fine for about a week or so, then the process starts again. My PC thinks it's a circulation issue and I'm getting some type of ulceration of the skin because of it. He's not sure if it could be related to the masto. I've done some research and think it might be digital scleroderma. I'll be bringing it up at my next appointment.

In terms of medication, I'm on 5mg 1/day of the generic form of Xyzal and 20mg 1/day of Aciphex for the gerd. I also carry an epi-pen, but I've never needed it. The Aciphex works great, but it's non-formulary and really expensive ($280/month), so I think I'm going try something else. The levocetirizine (Xyzal) is an H1 blocker, so my hemat. suggested adding an H2. We also discussed upping the dose, but with the lower histamine levels of the last test, I'm not sure what he'll say.

We haven't done a urine test, and my hemat. wants to avoid a bmb if at all possible, and I'm inclined to agree with him. ;)

Do you have an intro thread? Never mind, I'll check for it myself. From reading this thread, it seems like your family has some experience with this type of thing, so I'd like to get caught up on your story. I saw that your husband is doing better than a year ago, which is great! I'm right with you in your gratitude about this site. It's taught me that I have to take charge of this myself. My doctors are all very interested, but it seems I really have to get in the driver's seat.

Anyway, I've droned on for a while (doesn't it sometimes feel good to put this stuff down in writing). Thanks for listening.

Title: Re: Tryptase question
Post by TinCanOnAString on 08/09/11 at 14:14:59

Hi Starflower. Sorry about that. It took me a while to reply to Patricia, so I didn't see your response.

Yes, I do carry an epi-pen for precautionary purposes, but I've never needed it.

My hematologist wanted to wait on the bmb, but that was before these latest test results came back. I'll have to see what he says when I go to the followup.

Title: Re: Tryptase question
Post by mikev on 08/10/11 at 03:48:40

Tin:
I agree that is a very high #. I'm a leaker sounds like you in some ways. Constant skin sensitivity problems. But mine is more a pain than an itch & my tryptase is 20. I as well have never shocked & in fact my doc said I didn't need to carry an epi at all. The one thing I didn't see in your meds was gastrocrom or if not in the US ketitofin, a mast cell stabilizer. This has been the most important add of all the meds that I take. Doesn't solve the skin issue but helps. Any more questions on skin issues let me know. Just realize mine is almost always internal only rarely an outbreak.
MikeV

Title: Re: Tryptase question
Post by Patricia on 08/10/11 at 07:03:42

What about getting tested for CKIT mutation? Heather do you know if your KIT gene is not mutated would that indicate a negative Bone Marrow? or do they have nothing to do with eachother?

Tin...its funny that you say you were on xyzal and achiphex because my husband was on xyzal for years and achiphex for 10yrs before he got really sick last year. He experienced a toxic reaction to scallops and this became full blown.

He always had a pimple like rash on his trunk and back area, would get worse with heat but nothing crazy. Had been given antibiotics, steroid creams for years and it would come and go. He got Hpilori 10 yrs ago and had an allergic reaction to the antibiotics and was put on achiphex and could never get off it. Any time we tried to stop he would get knife stabbing pain in the chest or horrible heartburn. Without our knowing it our insurance co stopped paying of aciphex and switched us to Protonix, same thing but much cheaper ($45). I wish they would have told us they were switching meds but fortunately he had no adverse reactions.

My husband started to sweat profusely, like a menopausal woman but all the docs said it was because of this hypothyroid. He had loose stools all the time and they told us to take immodium.

We never realized that when he would sweat, flush, get gassy and dizzy all at the same time that this was a multi organ reaction and he was probably very close to going into shock. Just learn to listen to your body and learn how it reacts to different temperatures, foods, stress, exhaustion ect and dont be afraid to automatically take a zyrtec/zantac or bandryl/zantac if its a really bad reaction. For some benadryl makes then really tired, it doesnt do anything to my husband so he can take 25/50mg during the day.

None of his health problems seemed like a big deal or something that could equal what we went through this past year. Its great that you are investigating further and it sounds like you have a good doctor.

Title: Re: Tryptase question
Post by Starflower on 08/10/11 at 10:25:41

It's possible to have the cKIT mutation and a negative biopsy (even a negative tryptase). It's also possible to have biopsy-confirmed SM without the mutation. We mast cell patients come in all flavors :D

Heather

Title: Re: Tryptase question
Post by Patricia on 08/10/11 at 11:30:03

ugh I knew you were going to say something like that! :)