Cutaneous or Systemic - help please?!

[HelenW1988]

Firstly - I am so happy to have found this place.

Secondly - I am very aware that all my symptoms probably aren't just related to mastocytosis.

Thirdly - I would really appreciate any help anyone might have for me and sorry for the long post!

My 'story' begins about 15 years ago. I started with red spots on my feet, they don't disappear with pressure and they don't have dariers sign. At the same time I experienced bleeding, heart burn, severe dizziness and lost 3 stone in a year (I was 9.5 stone to start with). After visiting the docs I was told I wasn't eating enough.

Fast forward to about 5 years ago. Those red spots started spreading down the top of my thighs and are now covering my legs, arms and torso. I have severe fatigue, horrendous pain which feels like I've been hit by a bus from morning until night, really bad pain in my right side which gets worse with medications and alcohol, flushing, lymph nodes which inflate and stay that way for months (one for about 2 years) and lots of other reactions which I have been advised is "anaphylaxis".

After being told I had severe depression (all my symptoms were "just in my head") and left with no emotions or sexual desires from taking antidepressants, I was finally seen by a dermatologist who believed that I wasn't well ... I guess the fact you can see my spots helped! He recommended I had a skin biopsy with the belief I had TMEP. This was the 1st time I heard about mastocytosis and decided not to read too much into it as tests like this had been done before to no relief.

Skin biopsy came back with positive staining results for mastocytosis. I was given a leaflet to read and could relate to so many things ... finally I felt like I was being believed and on to a diagnosis which I could then find support for.

The doctors referred me to a dermatologist who sent me for a blood serum tryptase test which came back with a result of 24. I met with him and his team this week who stated that its only slightly raised. He stated that as I have no inflammation of my organs (other than lymph nodes), all my bloods are otherwise ok and my weight is stable, I therefore do not have systemic involvement and is cutaneous only. He said I should monitor my weight and only if I start losing weight rapidly should I go back to the doctor.

Am I being completely insecure about thinking i have just been completely fobbed off? I have some pretty horrible symptoms which make daily tasks a nightmare at times which are mostly relatable to systemic mastocytosis. Am I trying to find a link to something which just isn't true? Has my dermatologist done everything he can to rule out systemic mastocytosis and its yet again "all in my head"?

Anyone who might be able to offer any words of advice whether that is to support the result the dermatologist gave me or not at least I will know!

[Jess-UKMasto Partner]

Hi Helen, I believe you sent an email (I’m just getting over COVID, so apologies for the delay). Glad you’re here. Let’s find a time to talk through next steps.

But as a start, 24 is not an alarming tryptase level but it is above the threshold (20) for having a strong suspicion of systemic mastocytosis.

It would be great to direct you to an experienced doctor who can see if managing your Mastocytosis better can help improve your quality of life!

[HelenW1988 in reply to Jess-UKMasto]

Hi, yes I did! I then found the forum so thought other people might be able to help or have other thoughts. I'm so glad I have found here and to be able to read so many resonating posts.I hope you are doing ok from having Covid and keeping well rested.

Thank you for replying on here and any information would be very well received

😊

[LotiRamjet]

I found that some people have Mastocytosis without positive tryptase levels. I was started on Ketotifen and Cromolyn which made me much much better. This, along with my self reported symptoms, got me diagnosed with masto. I have suffered from allergies my entire life along with back pain, kidney pain, numerous issues with various systems. It would move around from place to place in my body. I am finally feeling more normal than I have in a long time. My biggest issue is my back pain, which I’m having imaging of today to look for signs of masto as it usually attacks the lower back. Glad you are here and happy to talk anytime! I would love to know more from you!

[HelenW1988 in reply to LotiRamjet]

Wow I'm glad to hear that they seem to have found something that works for you! 😀What will the imaging show? Your doctor seems to have a better understanding than the ones I have. How did they diagnose you from symptoms? If my bloods and scans come back abnormal but there's no visible symptom they just tell me it's nothing.

I've suffered with various things over the years which never go away, just more appear to be added to the list ...

Severe back pain is something I've had since I was little, I can't sit up by myself or stand for long periods of time without gasping for breath. My stomach has always been an issue and the doctors 'diagnosed' me with stomach migraines when I was younger because they had/ have no idea what causes the pain or cramps etc.

The worst thing for me now is the fatigue and ongoing body pain as they're fairly new. I can sleep 8 to 10 hours every night and feel like I've not slept. I can't stay awake past 11 o'clock at night and wake up always feeling like I've been to the gym in my sleep!

[Saxaphone1]

Hi Helen , I started off by seeing an excellent dermatologist. She referred me to haematology due to raised trypase level who arranged bone marrow biopsy which confirmed it was systemic mastocytosis . Hope that helps , good luck. Liz

[HelenW1988 in reply to Saxaphone1]

Sorry for the late reply. I really appreciate you taking time to answer.I am going to go back to the doctor who referred me in the first place and ask to be seen be a haematologist as I think this is the next step from what everyone has been saying.

Fingers crossed!