You are here

Diagnosed with FIP1L1-PDGFRA+ CEL

Hi All,

I was diagnosed with CEL (FIP1L1-PDGFRA+) 2 months ago. While not CML, it is very similar and there are no support groups that I have found in the UK.

My mother had AML, and my daughter ALL. Sadly I lost my Mum to the disease when she was just 54, but my daughter is fine after 23 years (she was diagnosed at 3).

So i've lived with the spectre of leukaemia in one form and another for the last 30 + years. To be diagnosed myself with CEL has rather knocked my off my feet. My health had began to deteriorate markedly when they eventually tested for, and found the FIP1L1-PDGFRA gene fusion. 2 years of strange symptons and then a routine blood test picked out a FBC that way out of limits for eosinophils, and a mast cell tryptase level 10 times higher than normal. BMB indicates CEL rather than HES, but the prognosis and treatment is the same - so whats in a name!

Aquired, rather then hereditory, I'm told. Too much of a coincidence if you ask me.

Anyway I'm currently on 100mg imatinib daily and learning to cope with primarily the headache and occasional brain fog, but most of all learing to solw down! I'm a senior Army Officer having served for over 35 years and don't know how to slow down!!

I hope you don't mind me tagging onto here - theres so much useful info!!!!

Hi and welcome to this forum,

I have one question... why only 100mg imatinib when first line CML is treated with 400mg standard?
I have not knowledge of CEL or HES but if imatinib is indicated as a target of the fusion gene you mention then my best guess is that is because it targets PDGF?

I am sorry that you have had so much to cope with in your family- but glad that your daughter is well after a diagnosis of ALL at 3 years old. That must have been hard to cope with.

Please feel welcome here- we at least have imatinib in common if not the same fusion gene!

Have your looked for a list on ACOR? www.acor.org. That was the first online resource that I found when I was diagnose with CML back in Dec.1998. But please feel welcome here- we at least have imatinib in common if not the same fusion gene!

Best wishes,
Sandy

Dear all,

I've not checked in for some time, but I thought I would just update you on progress. As I have said before CEL is very similar to CML (different gene) , but there are no support groups available for us CEL sufferes, and I often drop into various other support forums to see if there is any read across.

So over 5 years on, and still on Imatinib, although for the last 18 months I've been on a dose descalation trial, and I'm now down to 100mg every other day. Molecular analysis shows that there is no sign of the FIP1L1-PDGFRa mutation, but my master cell tryptase remains outside of 'normal' limits, but no one knows why. I've been through the transition to generic imatinib as well, and that didn't go well, with a significant increase in side effects (including the loss of my swallowing reflex - which was scarey), so now back on Gleevec.

Life is still a challenge, and I suppose I suffer from health related anxiety - every unusual symptom starts a worry bead, but it could be a lot worse! Lots of itching and spots on Gleevec and periodic fatigue but I'm hear, and getting up in the morning!!