Is it possible to have localized mast cell activation disorder which results in systemic mast cell degranulation?
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Hi I have been diagnosed with a mast cell activation disorder, a weird range of constantly changing symptoms that have included random inflamation, flushing, wheezing, abdominal pains . My symptoms are exacerbated and can be triggered by pressure on my lower back e.g sitting or indeed vibration such as standing on a train. I can not sit or lie on my back. I had a 98ga pet scan that showed an area of focus in my left sacrum but a focused mri just showed a “ congenital bone anomoly ” This seems an incredible coincidence, is it possible to have a localised mast cell activation disorder which somehow results in systemic mast cell degranulation somewhere else in my body. If I sit down I get taught sensations across my lower back and through the trunk of my body and my blood pressure goes very high
Posted Sun, 15 Dec 2013 in Asthma and Allergy
Answered by Dr. Sujoy Khan 7 hours later
Brief Answer: Most likely mastocytosis - unless otherwise proved Detailed Answer: Hello, Welcome to Healthcare Magic. Your symptoms of skin rashes, flushing, wheezing, abdominal pains together with a riased mast cell tryptase (a test that I assume has been done) would be entirely consistent with mastocytosis. Now this could be localised (a more difficult diagnosis), but with systemic symptoms that you present with, is more likely not localised. A bone marrow biopsy with c-kit mutation test confirms the diagnosis. The left sacral focus needs a biopsy but not always if your haematologist is otherwise convinced. Anaphylaxis (especially to insect stings) is a problem, so do discuss with your Allergist or Immunologist regarding availability of injectable adrenaline and emergency management plan. Food intolerances are also a problem, but can be managed quite easily if you are on treatment. Do see this link: WWW.WWWW.WW Best Wishes.
Follow-up: Is it possible to have localized mast cell activation disorder which results in systemic mast cell degranulation? 2 hours later
Hi the haemotologist has discounted systemic mastocytosis I have had a bone biopsy and the c kit test , both were normal. My serum tryptase level was 5. I have a endocrine professor coordinating my tests, he referred me to the haematologist. When the tests came back negative the prof said he was surprised and did some research and found a recent paper by a prof Afrin at the university of South XXXXXXX that describes in great detail a disorder called mast cell activation disorder. It appears systemic mastocytosis is a rare subset of much more prevalent mast cell disorders. The prof seems confident that this is what I have, but there is a very clear localised element to my symptoms. E.g pressure on my buttocks can trigger a taught abdomen, effects my breathing and for a period over the summer my hands would go red ! There is a paper by a professor valent of the uni of Vienna on mast cell activation disorders , in that paper there is a sentence that refers to the need "to discount localised mast cell activation" I am trying to find out more about what this could mean. Over a year ago when the posture related trigger first became clear I found that sitting in a certain position would trigger a taught warm sensation across my lower back and after a minute my chest would go tight and I would wheeze. Weird symptoms that I suspect can only have a simple answer, no matter how rare you might think it is. Can you shed some light on prof Valents statement ? Thanks
Answered by Dr. Sujoy Khan 5 hours later
Brief Answer: Genetically altered mast cells causing symptoms Detailed Answer: Hello, Good to know that you have undergone the relevant tests and mast cell tryptase is normal. What Prof Valent means is that there are 'some' genetically altered mast cells that causes symptoms, or that although the serum tryptase is normal the mast cells in your body are in an 'activated' state than usual. This causes symptoms at some times but not always. In this condition, bone marrow c-kit studies and biochemical levels of tryptase are normal. Mutations in kinases other than c-kit may be the cause but this remains unknown. Further info at: WWW.WWWW.WW Best Wishes.
Follow-up: Is it possible to have localized mast cell activation disorder which results in systemic mast cell degranulation? 2 days later
Assuming I have something in my lower back that is causing localised mast cell activation what are the reasonable next steps I could ask to be taken to further the investigation. I have this focus from the pet scan on my left sacrum which under a focused mri showed up as a congenital bone abnormality. How does one identify localised mast cell activation, from prof Valents paper it is obviously possible as he says it is important to discount it ? Will anything show up on any other type of scan ? Is a pet scan focus enough justification for a ct guided needle biopsy ? The bone anomaly seems a amazing coincidence given it is a mast cell anomaly, is there anything that can be done to investigate that, e.g is a bone scan likely to be any use ? Is there any thing published on this subject ? Thanks XXXXXXX
Answered by Dr. Sujoy Khan 8 hours later
Brief Answer: Biopsy from affected area Detailed Answer: Hello, What you would need is a biopsy from the affected area, to see if there are sheets of mast cells. If this is localised mast cell sarcoma, serum levels of tryptase would be normal as in your case. If the biopsy is normal, then I think you will just need to be symptomatic treatment. Long acting antihistamines with sodium chromoglycate (mast cell stabiliser) should suffice. Best Wishes.