Hi David, how many platelet tests have you had so far?
my daughter is 2.5 and had high platelets since found randomly at 8m old. we have been testing every 3 months and they are always high,spiking when ill (to 1,200 as an example) but definitely still high when well. the last year more stable at around 575-590.
She was also negative for all 3 tests you mentioned. (though in kids it seems this scenario is more common even if they later find they have Essential thrombocythemia (ET))
She was at the low end for some iron results so been on iron for a year which the iron score improved but not the platelets. She was passing out though while the iron was low, so have you had that checked?
Other tests they have run on her at various points to help explore/rule out reactive causes are
ultrasound on spleen and liver
Coeliac tests (wheat allergy as IBS can cause high platelets)
Looking for inflammation markers (ie arthritis)
A creatine kinase test which seems to check muscle wastage but wasn’t fully explained
Acute myeloid leukaemia (AML) test again not fully explained but negative
There are some inherited things apparently that can cause high platelets which I used work insurance to test for a year ago and was also negative.it was a gene test of some kind.
For the passing out they did a few ECGs the day of the episodes,
After a few happened we were able to push (hard) for a 24 hour holter monitor. This found a heart pause of 2seconds and aligns with a type of fainting for her age group. in adults the call her type vasovagal syncope/cardio syncope. there is another similar condition called POTS. a common trigger for all is also dehydration.
She had an EEG which ruled out epilepsy
She has not had any MRI although apparently NICE recommends this after 2 passing out or seizure like episodes
No bone marrow biopsy as they say she is too young, but this is apparently needed for an Myeloproliferative neoplasms (MPN) diagnosis.
We have been advised for platelets testing to only test when well fed and watered as dehydration can raise platelets as can any common illness ie cold, flu, covid, norovirus etc. a vaccination could also spike it.
Given the narrow number of causes for high platelets, I have become frustrated at the long delay in getting answers.
The WHO have a flow chart signposting the testing to do with higk platelets that you might find useful? annoyingly it doesn’t come with a timeline for Dr’s to follow!
Been told our daughter is too young for a bone marrow biopsy.
I emailed an Myeloproliferative neoplasms (MPN) specialist (just using google, not a paid thing!) and asked for an opinion on it all after a year and the triple negative results, she suggested I push for a haematologist which I did by asking our GP to arrange it. I have had to be quite pushy and proactive! With the passing of time people seem a bit more willing to do things…!
Anyway at our last appointment the haematologist acknowledged it doesn’t seem to be reactive, so I said ok how do we learn what it is. he agreed to redo the 3 mutations, explaining that as these are acquired it can be sensible to repeat after a period of time to see if one appears. so that is finally happening at the end of the month.
have you had many high results?
have you had any different tests to us?
I have been finding it difficult, especially the general lack of speed to get a diagnosis!