Mast Cell Activation Syndrome

Krinzgal
  • By Krinzgal · January 14, 2013 at 1:54 pm · 5 replies
  • In Getting a diagnosis
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My daughter has suffered a myriad of symptoms since the age of seven. She is now 18 years old. Her geneticist asked recently if anyone had ever suggested she be tested for mast cell activation syndrome.

After reading the symptoms common to this disorder, I feel strongly we may finally be on the right path.

My question: Does anyone here with a mastocytosis or related disorder ever have a problem with the skin beneath and around your eyes turning dark, followed by swelling of the eyelids, itching and flaking skin? No one she has seen can offer an explanation.

She has type 1 and type 2 diabetes, IBS, history of singular cyst on her right Fallopian tube, chronic sphenoid sinus disease and polyp, elevated pyruvate and lactacte blood levels, high cholesterol, dermatographia, unexplained hard red bumps on her ankles, torso and face with pronounced itching and pain, chronically painful joints, especially ankles, knees, hips and shoulders, profound fatigue, autoimmune thyroiditis with goiter and hypothyroidism. She has a history of osteopenia, high calcium and very low vitamin D.

From what I have read, it sounds like this mast cell business could be the culprit. Her brother has historically produced a sunburn-like rash and itching with exercise and during times of high anxiety, as well as IBS. We all three flush easily.

If you have mast cell activation syndrome, could you please let me know if you have had any success with treatment and would you recommend a specialist? The geneticist is suggesting exome sequencing testing. Has anyone had that?

Thanks in advance for any input. It would be a godsend to finally know what is going on with our children.

Kristen

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5 replies   

pendelphin

Hi I have systemic masto,and from what you say I think this might well be the problem, you need a tryptase test to give a good indication, but even then it can still be masto if this is normal, we are a weired lot, lol, I have similar symtoms around my eyes dark under eye swelling and itching and my eyelashes brake, I have had PUVA light treatment as well as meds this helped a little, have you been in touch with josie she is out guru on here and a mind of helpful information, I will try to pass your name on to her, take care t x

pendelphin

Hi I have been in touch with josie she asked me to pass on her web site its www.iamast.com. she is the best person to talk to, good luck t x

josie75

Hi Kirsten ,

Thanks trudy ;-) yes she reads well for a mast cell condition .Were abouts do you live ? there are good doctors but a little spread out xx Id like to see pics of the rashes xx Could you check to see if inside her cheeks is dark ;-) I have mast cell disease xx I get the dark eyes like ive not slept for months xx many many hugs Jose

Krinzgal
  • By Krinzgal
  • Reply 3709889 · In reply to 3708476 by pendelphin
  • January 16, 2013 at 2:05 am
  • Report post

Thanks! I hope you are finding relief for your symptoms! Learning a lot already. Take care!

Krinzgal
  • By Krinzgal
  • Reply 3709896 · In reply to 3708654 by josie75
  • January 16, 2013 at 2:20 am
  • Report post

I have photos. I will post them when I find them. This is the only place I have found anyone having the same eyelid symptoms. Have you had any luck getting help? We are seeing her geneticist in April for Exome testing regarding her unusual diabetes and to talk about the mast cell syndrome.

My son also has odd symptoms that an allergist suggested might be an "allergic" reaction to acetylcholine, but after reading about mast cell issues, that may be the culprit. He turns red like he has a sunburn when he exercises or when he gets very anxious, like on an exam day, and he itches terribly. He also has IBS. He had unusual allergy testing in that he had multiple strong positives to skin prick but had completely negative RAST testing. Does that ring a bell regarding mast cells?

Thanks so much for the insight. My kids are young. I am so hoping we can do something to help improve these health issues. We live in Biloxi, Mississippi. Would love recommendations on specialists. We have traveled all over trying to get them figured out! We have great doctors here. The geneticist just recently suggested we read up on the mast cell connection.

Hope you are managing well!
Kristen

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