My wife 29 y/o female in generally good health has just been diagnosed through the NHS with CCUS otherwise known as Clonal Cytopenia of Undetermined Significance.
This all started as she was suffering with constantly high platelets for over two years. Doctors ordered a full blood count to rule out things like anemia, vitamin deficiency, other potential blood disorders etc. All tests came back fine however platelets were still raised and continued to raise. The doctor put her forward for a bone marrow biopsy. This was done under conscious sedation due to the anxiety and uncertainty she was facing. I would urge people in the UK under the NHS to ask for this should you need one as the first time round she could not go through with it due to the pain. Second time with sedation, BBM was performed with no issues.
Results from the BMB shows she has the mutation in the DNMT3A (DNA methyltransferase 3 alpha) gene and all other findings were in line with a diagnosis of CCUS. The doctors were surprised and also a bit shocked as this isn’t something that a 29 year old female should be showing symptoms of. This is mostly common in the elderly around the ages 70+ and from reading on google, (I know I shouldn’t) it’s a lot more prevalent in males.
The doctor has mentioned that going forward, she needs to be closely monitored with regular bloods and further BMB. I know CCUS can significantly raise the chances of developing in Myelodysplastic syndrome (MDS) and even Acute myeloid leukaemia (AML) however there doesn’t seem to be that much research done on this especially in younger people or in the UK
I’m also a bit confused how this started from high platelets however CCUS is due to a low blood count? We have decided to get a second opinion as we are lucky enough to have private medical insurance through our workplace.
This seems like quite a lonely and confusing diagnosis as it seems to be a ‘watch and wait game’ however this isn’t helping the constant fatigue she is feeling which I assume is down to this diagnosis. I guess I’m just wondering if anyone else is going through something similar who could provide any advice. It really helps me when I can talk with people who may be experiencing similar things!