Hi Brian - I am from the UK too. I have POTS and EDS and 'probable' MCAD so not mastocytosis. Where are you in the UK (you can PM me if you don't want to say). Sounds like you are getting looked after. It's quite hard to know initially whether you should be visiting a heamotologist, an immunologist or a dermatologist which is something I struggled with - and then I got diagnosed by a neurologist!

Thanks for sharing!

You've had all that diagnosis from blood testing? Wow. Any skin lesions that were biopsied?

What was your serum tryptase? Sorry I can't remember if you already said.

I hope they find a treatment that helps you!

Ana

Hi All,

Thanks for you replys and your warm wishes.

I actually think that serendipity has much to answer for in the speed of the diagnosis.  After 3/12 years since the first symptoms became evident, and some 11 months of tests etc by the dematology team looking for the cause of a range of skin problems (urticaria, puritis, severe vasulitus, dermagraphisum etc)  I was eventually refered to immunology in Mar 12 (Frimley Park Hospital - Dr Kahn), who 'in his words' unusually decided to test for mast cell tryptase level while he continued to establish if the cervical disc implant I had removed (due to wear derbis and failure to work correctly), was the cause of my auto-immune reaction (skin, rhinitis etc).  When the  the first results came back high (145), he had them tested again (twice 137 then 145).  

In all I have had 7 skin biopsies over the past 3 years - the diagnosis of all of them have been different and essentually inconclusive.  One did say (Nov 2009) differential dignosis was leukeamic infiltrates, but at that point FBC was normal.

After this he decided to rule out genetic abnormalities by testing for KIT kit d816v and FIP1L1-FDGFRA - lucky he did!!

His 'initial' diagnosis was cutaneous Mastocytosis - which changed over the the last week or so, as the results of the CT scan and the genetic testing came in.

I'm not sure how many FIP1L1-FDGFRA+ patients there are? Are there any others on this forum?  Dr Kahn says he doesn't no of any others in his current patient group, and doesn know anyone who has tested FIP1L1-FDGFRA+.


I must add that I also get many of the other symptoms common with mastocytosis - not just the skin problems ie, bone pain, aches and pains, fatigue, very dry eyes (like grit in your eye), short term memory loss, GI problems and cramps. CT scan has also showed is thickening of the wall of the descending colon, but no imparing function.
 
Best wishes,

Brian

Wow, Brian, you've been through a lot the past few days, but it sounds very hopeful.  So glad to hear!!!  I wish you a quick remission.  
Maiysa

Just thought I'd give you another update.  Nearly 4 months since diagnosis now.  Its been redefined as FIP1L1-PDGFRa + Chronic Eosinophilic Leukeamia - not HES under the 2012 WHO classification.  actually the consulatant said that it can also be described as SM with an associated clonal hematologic non-mast cell lineage disease (AHNMD) - really depends if you look at it from a mast cell or eosinophil perspective.  

My FBC is almost back to normal on Imatinib.  My typtase level has gone from 145 to 45 and was last at 22 last week, so heading in the right direction. But of course I'm still suffering a little due to the high tryptase level, but moving in the right direction.!!!