The Piebaldism Post Made Me Realize I Must Have Mastocytosis.

[faint factory]

I don't even know that it's worth being properly diagnosed because even if the tests came out negative I don't think it'd be accurate.

After that piebaldism post, I learned for the first time that the piebaldism I was born with could actually be related to my POTS. I researched a ton over a few days and discovered that both the piebaldism and mastocytosis are caused by mutations in the c-KIT gene. With the well documented connection between mastocytosis and POTS, I find it extremely difficult to believe that mastocytosis WOULDN'T be the link between POTS and piebaldism, especially when I have had POTS since I was a child and none of the other causes seem to apply to me.

On top of all of this, I have recently noticed that I've developed a gluten sensitivity which I assume is common in masto. After reading about mastocytosis, I started on H1 and H2 antihistamines as an experiment, and after several days of this I have noticed some change in the worst of my POTS symptoms.

I primarily think I must have this because of the link between masto, POTS, and piebaldism. It just seems extremely hard to believe that the established link between the two rare diseases somehow wouldn't be the case for me when I don't have any alternative cause of the POTS, and no history of anything related to piebaldism.

I guess I'm just sort of thinking "out loud", but I'd be interested in thoughts. I don't think it's worthwhile to get any official testing done as I don't have skin involvement so I believe it would require a bone marrow biopsy, and if the results were positive, the treatment is to do what I've been doing with the antihistamines.

[juliegee]

Hey FF-

I just inquired about participating in the NIH study that you referenced as I have many affected family members. No obvious white streaks in my hair, but progressively worsening loss of pigmentation in my skin. I get how you're connecting the dots & I agree that you need to investigate this. From what I can gather the NIH is investigating whether or not piebaldism is related to MCAD, not mastocytosis. The symptoms & treatment for both is very similar, but mastocytosis is caused by an abundance of mast cells. In MCAD, a patient has the normal number of mast cells, but they are overly reactive.

Check out The Mastocytosis Society website at www.tmsforacure.org to learn more. Click on mastocytosis to learn about it & MCAD. A mast cell researcher would be great to see for a DX. Where do you live? Maybe I can recommend a doc.

I first learned about MCAD on this site as well. Treating it has dramatically improved my POTS/NMH.

All the best-

Julie

[HopeSprings]

I tried looking at the Mastocytosis site and I keep getting a pop up that says "internet explorer cannot open this site - operation aborted." Is it the site or my computer? This doesn't happen with other websites.

[sue1234]

I think it might be good to get an official diagnosis! Can you imagine the people this could help in the future if you had that established diagnosis, and doctors would learn that if they have a POTS patient with ESPECIALLY the "white streak", they could say "aha!". Go find out and while you're there, ask if a white streak popping up in the 20s counts!! If so, then I guess I would get myself into a study to get it documented and treated.

Wow, when I posted about piebaldism, I thought I was the only "weirder" one here. I find out there are plenty of us!

[faint factory]

Julie, I did some further research and noticed that it seems to already have been connected to the same gene (c-KIT) that, when mutated, can lead to mastocytosis. There's even an article (unfortunately in Swedish!) titled "Mastocytosis or piebaldism--the KIT mutation decides" which seems to indicate that the mutations are closely related. Perhaps I'm such a mutant that I wound up with both! Heh. This article also mentions that both mastocytosis and piebaldism are related to mutations of the same gene: http://www.ncbi.nlm.nih.gov/pubmed/9519779

Once I started Googling mastocytosis and piebaldism instead of MCAD and piebaldism, I found quite a few mentions of studies indicating that the two arise from similar mutations of the same gene.

I am in the DC metro area.

[juliegee]

Hi FF-

Dr. Lawrence Schwartz, a mast cell researcher, in Richmond, VA comes highly recommended http://www.intmed.vcu.edu/home/divisions/rheumatology.html

Trust me, the whole diagnostic criteria for mast cell disorders is complicated and evolving as we speak. The C-KitD18V mutation can be found in both mastocytosis and in MCAS/D. It is is minor criteria in mastocytosis- other diagnostic parameters must be met to be diagnosed with mastocytosis, such as an elevated number of mast cells found via a bone marrow biopsy. If that criteria is NOT met, the patient is Dxed with clonal MCAS/D. Here is a link to a very recent power point to help you understand the diagnostic process:

http://www.newenglandsocietyofallergy.org/2011%20Spring%20Meeting/NESA%20talk%202.pdf

To further complicate this, we are awaiting the WHO criteria for MCAS/D. I suspect it will be very similar to that in the power point above as Dr. Cem Akin is one of the lead researchers working on that concensus statement.

The NIH is just looking into the connection between piebaldism and MCAS/D now. It is not definitively proven, but well worth studying. I'd love to be a participant in the study, just to have access to the testing.

Good for you for connecting the dots. Let us know what you find out.

Julie

[faint factory]

Thanks for the info. I tracked down a doctor just now who is covered by my insurance and apparently is familiar with MCAD, mastocytosis, AND POTS, so I think I'll give him a shot first. Apparently he is not afraid to refer people to the well known specialists if necessary. I have a PPO so I would get some insurance coverage if I went out of network, but I might as well go to the local covered guy if he is knowledgeable enough to tell me if I'm on to something.

[firewatcher]

Hmmm,

I was told at a young age to never tan, or even attempt to. The dermatologist told me that I just did not have enough melanin in my skin. I always burned, peeled and white as a sheet. I had my first skin cancer removed at 13 after never having serious sun exposure. I have LOTS of moles and pale brown blotches, but no overt loss of pigmentation. If I didn't have such a red face, I'd look like a spotted ghost! Maybe I should pursue this too.

[issie]

One thing to keep in mind, from what I'm reading, piebaldism is a genetic inherited disorder and is apparent at birth. I have vitiligo - that looks like piebaldism - but I didn't get it until later in life. So, it's not the same thing. My patches are very large, not just little dots on your skin. Some people as they age, do get little white dots - not the same as vitiligo or piebaldism.