Up/masto Diagnosis!! Help!!

[Godsgal]

I can't believe it! My dermatologist just called me and told me the spots on my body are urticaria pigmentosa/cutaneous mastocytosis.

I'm shocked. In disbelief. Denial. I've been searching for the cause of this and I can't believe I have found it.

Someone, tell me what this means!! Help!! A little dumbfounded right now. I have a normal tryptase. I'm not really sure what to do.

I was just started on singulair 10 mg, and I take Pepcid 20 mg. twice a day, and 1 Claritin. Plus my beta blocker & Midodrine.

ANY help would be greatly appreciated.

[RockiesGirl]

So happy you finally have it figured out!!! Prayers and encouragement your way

[Godsgal]

AND I forgot to mention my hematologist is mentioning CHEMO to treat this.

WHAT?!? AND he wants to do a bone marrow.

I have a normal tryptase and all my white blood cells are normal. NOW WHAT?!?

Trying to keep the faith over here but I'm struggling!!!!!!

[juliegee]

Hi Jared-

Deep breath. Knowledge is power & you are getting closer to the truth behind your symptoms. That is a good thing as far as treatment, etc. Sorry you have another DX, but this is really more confirmation of what you've already been dealing with...getting pieces of your DX at a time.

As I recall you've already gotten confirmation of elevated methylhistamine and you've had some anaphylactic symptoms that have been reversing and responding well to the MCAD med regimen. Urticaria Pigmentosa/UP is conformation of mastocytosis, usually cutaneous- which means it is limited to the skin. This does not seem to hold true in your case as exhibited by the rest of your presentation. Are you already dealing with a mast cell researcher? If not, you need to get to a specialist ASAP. I suspect that a bone marrow biopsy is in your near future to firm up your diagnosis.

The diagnostic process will take time. The excitement of this news is enough to stir those mast cells up & make you more symptomatic. Tell me again what meds you are taking. It's more important than ever to be sure that you are on a good med regimen while sorting all of this out.

I'm sorry once again, but this could be a very good thing. Now that you know what is behind your symptoms, you will better be able to target your treatment and make yourself healthier and safer.

Hugs-

Julie

[RockiesGirl]

AND I forgot to mention my hematologist is mentioning CHEMO to treat this.

WHAT?!? AND he wants to do a bone marrow.

I have a normal tryptase and all my white blood cells are normal. NOW WHAT?!?

Trying to keep the faith over here but I'm struggling!!!!!!

So sorry to hear now that you have an answer the solution or help is such a hard 'pill' to swallow!! I did not realize..... More prayers and hopefully they can figure out a different avenue ;o)

[juliegee]

Hi Jared-

I just read your second post. Does this hematologist regularly deal with mastocytosis patients? THAT is the type of doctor you need right now. Many hematologists have one or two patients their whole career...

It seems premature of this doctor to already be recommending chemotherapy before your specific diagnosis is hammered out. It is VERY rarely used for some forms of mastocytosis. I have heard of some patients doing a form of chemo, usually by taking once daily gleevac tablets. Once again, that is very rare. Do not panic. There are other treatment options that consist of taking the MCAD meds and adding mast cell stabilizers.

Jared, where do you live? In case your doctor is NOT a mast cell researcher/specialist, I may be able to recommend one near you. Getting several opinions is a very good idea at this point. I'm afraid a bone marrow biopsy will be necessary, but ONLY go through the procedure with a doctor at a major teaching hospital that knows the proper gathering and staining techniques.

At this point, you may be able to find the most help via The Mastocytosis Society website: www.tmsforacure.org The board chairwoman is named Valerie Slee. You will be able to contact her & she can offer you unparalleled advise.

Honey, do not panic. Sorting this out will take time. You obviously have some great docs helping you unravel this & will be directed to even more specialized docs if needed. I'm sending good thoughts and prayers your way.

Big Hugs-

Julie

[Godsgal]

My hematologist is NOT a mast cell researcher. He doesn't know this disease I don't think. He was the one that told me I'm thinking I'm going to try Candido Rivera at Mayo. But I'm not sure yet. Trying to get my cardiologist to work with one of the mast cell researchers to at least give me the right medications.

I take one claritin, 10 mg. singulair, and pepcid 20 mg. twice a day. My hematologist won't give me any more meds even with this diagnosis. Ridiculous.

I live in South Florida.

I do believe the bone marrow biopsy is inevitable. I just want it done by someone who knows what they are doing. Perhaps a train trip to Virginia is in order. I don't know. I'm still thinking and mulling this all over. Praying.

Thank you both for responding.

[juliegee]

Hi Jared-

There is a fabulous hematologist/oncologist in Charleston, SC- named Lawrence Afrin. He works with this population on a regular basis. I would highly recommend him OR ask Valerie Slee her opinion for a recommendation maybe closer to home. Chemo for UP is a bit outrageous, especially since your DX isn't totally hammered out until you do the BMB. Only then, can you begin considering treatment options. This gets to be a bit of a catch-22, since there is little point to doing a BMB unless it is with a proper mast cell specialist. I have seen too many submit to botched jobs at their local hospitals and then have to repeat them at major teaching hospitals. (They are botched only in terms of improper procedure, NOT your discomfort.) Out of curiosity, who did you have in mind to see in VA?

This is a really rare condition and you will definitely need to see a mast cell specialist at least for the diagnostic phase. How are your symptoms now? Any further episodes? If not, perhaps your meds are OK. If so, you could easily add a stronger H-1 at night, like atarax and/or a mast cell stabilizer. I can't believe your docs are withholding these- they are pretty basic treatment tools for yoru condition...goes to show me they don't get this.

I saw in another post that you are on a beta blocker. You need to get off for two reasons. Beta blockers greatly worsen symptoms in folks with mast cell disorders AND should you need to use your epi-pen, it may not be as effective as you need it to be- it actually happened to me while I was on a beta blocker. I had to go to the hospital for a 2nd shot.

You have a lot to swallow & not very supportive or knowledgeable doctors surrounding you. Call or E-Mail Valerie. She will be able to hook you up pronto.

Hugs-

Julie

[Sarah4444]

Hi Jared -

I just wanted to add that I am sorry to hear you have this, but very glad you are on your way to having a better understanding of what is going on. Julie gives great advice. I would only add that mast cell stabilizers have been very helpful to me as well.

Hopefully as more doctors see patients like you, they will realize that POTS can be a presenting form of mastocytosis. Hang in there, and please keep us posted as you learn.

Sarah

[Godsgal]

I want to tell you how much I appreciate you helping me.

I also want to post some pics somewhere of my skin because I'm telling you, it looks NOTHING like the pics on the internet. I just noticed some small brown freckles, that I had never noticed anymore. So benign looking, let me tell you.

Now does my muscle pain have something to do with this? And lymph nodes that hurt?

My CBC blood work has been normal. My tryptase is normal. I suppose I have had some "anaphlaxis" episodes in my life but never full blown use an epi-pen type episodes, thanks be to GOD. Since I have had POTS, it's mostly just sudden blood pressure drops, dizziness, nausea, "D" as you call it, and some periods of not feeling like I can't breathe normally. Flushing too. I had been doing better on my histamine free diet and then all of a sudden it turned hot down here in south Florida and forget it. Daily episodes of near syncope, itching, low blood pressure, dizziness, nausea, feeling hot, etc.

Do any of you have this in your skin? I'm so scared it will turn systemic. If you looked at my skin you would be shocked. It looks totally normal. I went on a desperate whim to my dermatologist who is amazing, Dr. Peter Wallach in Coral Springs.

[juliegee]

I'd love to see some pics. I've posted a few here on sites like "mobile me gallery" and then posted a link. It's a little complicated, but I'm sure you can figure it out. Where are the spots? Are they new? Do they come and go or are they stable? Was the DX made by a visual exam or biopsy?

You sound like you're in denial, Jared keep in mind that your methylhistamine was elevated which is commonly seen with UP... I'm glad you're basically stable. Heat is a huge known trigger for many- especially with UP- so be careful as it heats up.

All the best-

Julie

[Sarah4444]

I would also love to see pictures! I have been noticing all kinds of different "freckles" appearing on my skin and wondering about them. The dermatologist I saw said they are freckles, but I am not convinced. I have gotten used to my skin over the decades and for the last few years it has been changing. I have wondered about "Diffuse Cutaneous Mastocytosis" - I can't find any pictures of it but it's described at its worst as being like orange peel, but in milder forms as a "freckle-like rash". How do you tell the difference between that and all the old freckles?

My skin biopsy indicated some mast cells but the pathologist said they "did not appear to be increased in numbers" and he recommended another biopsy, which the dermatologist didn't follow through on. I have a feeling that might be pathologist code for "I have no standard of comparison having never seen this before and am just making a guess here". I would love to see some photos of "freckles" that have turned out to be masto, and of some confirmed Diffuse Cutaneous Mastocytosis, if anyone can direct me to them.

And don't worry even if you are in denial Jared, I sort of am too. But we don't have a choice about whatever we have, and it's better to be on the right track. I think I need a second opinion from a dermatologist, but I am already seeing the ONE in Canada who sees CM. Wondering about a trip to Florida...we did have a snowstorm here yesterday

[juliegee]

Here is one of the best sites for UP pics that I've found. But, I want to see Jared's

http://www.dermnet.org.nz/colour/urticaria-pigmentosum.html

One other thought, if your freckles are in areas that are commonly exposed to sun, probably not UP. If the freckle pattern continues on areas that are typically covered...better chance,

[Chaos]

I'd love to see some pics too. It would be really helpful to see what made the doc suspicious.

[sue1234]

I would love to see your pictures to. I'm glad you are getting to the root of your symptoms.

[Sarah4444]

I am looking specifically for photos of diffuse cutaneous mastocytosis, the one described as a freckle-like rash. For now most of my freckles are on sun-exposed areas, but some patches of them are growing and I can see "shadows" of freckles even on areas not usually exposed to sun. There is one phote of DCM you find over and over when you look online:

http://www.nlm.nih.gov/medlineplus/ency/imagepages/2438.htm

It does look familiar to me, but I'd love to see other pics. I also have come across articles about familial diffuse cutaneous mastocytosis, and DCM causing recurrent anaphylaxis and hypertension in one patient (a baby). I'll post them as attachments on MSC if anyone wants to see them.

[Godsgal]

Okay....I think I need help getting these pics up!!! I want to help everyone, I just don't know how to get these things public. I will have to ask my hubby on Julie's suggestion. Any other suggestions on how to get these up?

And yes, denial is here. BUT it's slowly going away as the talk of bone marrow biopsies come up. My hematologist called and wants me to go to NIH....not sure if I want to be a lab rat. But it would be free. Don't know what to do. I'm really scared it's gone systemic. But faith and hope tell me otherwise. I feel like it would be a lot more evident if it had. My hematologist also wants CT scans done of my abdomen. Any problems with the lidocaine or barium for us?

[sue1234]

If I was you, I would go to NIH if that is a possibility for you. So much knowledge there.

When I have a CT scan with contrast, my heart races for a few minutes. When I mention it, they play it down and say it must be anxiety. The last time I told them it ONLY happened AFTER they injected the dye. There goes that anxiety excuse again!!

[Godsgal]

Yeah....definitely not looking forward to the ct scans or bmb. I will tell you my spots and weird things on my skin do not itch, they don't have the darier sign, they don't swell up or turn red. Nothing. And believe me, I tested them thoroughly before I went to the dermatologist

I want to get my pics somewhere accessible b/c I'm telling you they don't look like anything.

To answer Julie's question, one spot here or there. Nothing gathered closely together. And they are so small. Not even dark. If I wasn't totally paranoid, I would have never seen them. The small freckles on my arms are light brown. I noticed new ones different spots and I'm never in the sun. I thought, okay, if I'm never in the sun, why do I have this tiny little new freckle on the inside of my arm? My dermatologist told me that other dermatologists over look them all the time b/c they are totally benign looking. I know that I had a spot on my back which I never saw but he told me it was small reddish with tiny veins in it. I had a small bump come up, it almost looked like a zit that wouldn't pop but it was flesh colored and hard. I just assumed it was a mole. All of the spots look very different but all had the mast cells and the spindle shapes I guess...whatever that means.

[Sarah4444]

I would check this out with people who know a lot more than I do about mastocytosis, but I know some of them have a lot of difficulty with CT scan contrast and pre-medicate to avoid reaction. Others report having increased symptoms after BMB, and they attribute it to stress, pain and trauma I think.

[juliegee]

Okay....I think I need help getting these pics up!!! I want to help everyone, I just don't know how to get these things public. I will have to ask my hubby on Julie's suggestion. Any other suggestions on how to get these up?

And yes, denial is here. BUT it's slowly going away as the talk of bone marrow biopsies come up. My hematologist called and wants me to go to NIH....not sure if I want to be a lab rat. But it would be free. Don't know what to do. I'm really scared it's gone systemic. But faith and hope tell me otherwise. I feel like it would be a lot more evident if it had. My hematologist also wants CT scans done of my abdomen. Any problems with the lidocaine or barium for us?

NIH would be a great alternative. You'd definitely get a DX sewed up there. Re. the CT scan, have you ever had a problem with one before? They do stir up mast cells. Be sure you've taken your MCAD regimen for the day & consider an additional H-1. I usually take my atarx at night, but do pop one before a CT or I get contrast just to be safe.

Lidocaine of barium would be a case by case basis... What's the lidocaine for?

[Godsgal]

the lidocaine is for the bone marrow biopsy

My hematologist has already told me he can do it.....but I'm only the 2nd person he has had in his career with this. The first one he referred to NIH. That's what he plans on doing with me once he gets the CT scans and bmb done. I just don't know what to do. If I should let him do it or let Mayo do it. Really not sure.....my hematologist is 20 minutes away. It's pretty tempting to let him do it but a lot of people say on forums to only let a mast cell researcher do it. Why is that?

[Godsgal]

Here's the pics:

https://picasaweb.google.com/103043308031588199236/20110422?authkey=Gv1sRgCKy2ha_W8tzmlgE#

let me know if this link doesn't work.

pic #1 the spot closest to my finger was raised like a mole. The one to the right is flat.

pic #2 this is a small flesh colored bump...hard and raised, like a pimple, but doesn't pop

pic #3 this is my full arm...you can see the scab from the biopsy, and pic #1's spot is to the top right of the scab (about 2 o' clock). Towards the top on the left side of my wrist is pic #2's spot.

I had another spot on my shoulder that I have nothing to compare it to but if was a brownish red mole with very light little capillaries in it.