Recent diagnosis

[BearBunny]

I have recently been told I have maculopapular cutaneous mastocytosis, the consultant I saw could identify it but didn’t seem to know many details of the condition, they printed off a website for me to read myself. The consultant said she didn’t see reason to do blood tests and check for systemic mastocytosis as she’d never met anyone with it before. After leaving the appointment I felt confused having been given a diagnosis but no details about it and was told to “try living with it”. Since doing my own research I have seen so much stuff about epi-pens, anaphylaxis and medications that have made me wonder why none of that was explained to me. I am now very worried about my condition but don’t see the consultant for another year and don’t have any way of contacting her. Do you think I should push for the blood tests and enquire about epi-pens? Any advice would be appreciated

[amadamico]

Hi, I have the same condition which was diagnosed after being referred to a dermatologist and then a haematologist. They did basic blood tests to check my Tryptase levels and a small biopsy from my leg both confirmed my diagnosis. I was then given a further blood test to check for the KIT gene which I have. This means mine has the ability to turn into the Systemic version. I was then prescribed EpiPens after the dermatologist and haematologist met to discuss me further. They say they’re 99% sure I won’t need them but the guidance states I have to have them with me at all times.

I would go back to your consultant and asked to be referred for a confirmed diagnosis if I were you.

I hope this helps and happy to answer any more questions if I can.

[Marcilhac]

Hi

If your consultant knows nothing about mastocytosis you need to see someone who does! My route to a diagnosis was testing in Guys and st Thomss’s hospital Immunology department which checked tryptase and prostglandin levels and did a genetic test which confirmed I have the C-kit mutation. I was then referred on to the Haematologist for further advice and monitoring. Perhaps your condition is only effecting the skin but mastocytosis can impact you bodywide and getting informed advice is sensible. Do you have other isdues which might be related ?

You need testing i think to know whether epipens would be wise .

I am prescribed antihystamines type 1 and type 2 in higher than the usual dosage snd also take omeprazole to control stomach acid. And react to the typical list of triggers- stress, heat, food colouring. Insect bites and ibuprofen .

Is you have a systemic version of mastocytosis you will perhaps have other non-skin problems which are in fact all related. But perhaps your condition is only skin related. That would be good - but find out if you can

[Jess-UKMasto Administrator]

Hi BearBunny, I'm sorry you had this experience. Dermatologists will often have seen just a handful of patients and often those will be children, who nearly all have mastocytosis only in the skin. In contrast, most adults with have systemic mastocytosis, where there are too many mast cells (which are the cells that react in allergic reactions and release chemicals like histamine and many others) in the skin but also in the bone marrow, the gastrointestinal tract and other parts of the body. You should have a full blood count as well as a tryptase test as a starting point. If your tryptase is high teens or over 20 then a referral to a haematologist should be relatively straightforward. Happy to talk things through with you if you have more questions!

[Jess-UKMasto Administrator in reply to Jess-UKMasto]

To add, about half of all adults with systemic mastocytosis will experience anaphylaxis over a lifetime. For that reason, adults with an SM diagnosis (or a history of anaphylaxis, or allergies in parallel with cutaneous mastocytosis) should carry two epipens. Another area of caution is around the use of anaesthetics (which can be fine, but sometimes they aren't) and also caution should be used about taking medications (or anaesthetics) with opiates (codeine, morphine, fentanyl) since some people react to those. If you do need anaesthetics please go to our website and download the protocol at ukmasto.org