I am a little worried about my Dad and just wondered if anyone has any suggestions about where to go next....
I have PV and I know that they say that it doesn't run in families but I assume there could be a genetic predisposition to particular gene mutations...
Anyway, with that in mind, I am a bit worried about his symptoms. He is anaemic and has been for a few years now. They did investigate and ruled out any gastro causes but never found an answer.
During lockdown he had a DVT which has been treated but he still has groin pain (this is possibly to be expected). He is fit and healthy. Slim build, non smoker, balanced diet, approaching 70 (doesn't look it). No known cause of DVT.
He has low platelets, low WBC and enlarged spleen (unsure of exact figures). He is now complaining of shortness of breath - and I think this is really worrying him... and why I'm trying to find the best way to help.
GP said he has all the markings of sickle cell disease but said unlikely as no African/Caribbean background and also, spinal claudication??? Sending him for an MRI next month.
I'm just wondering if he should be seeing a haematologist? Is it possible to self-refer to haematology? Has anyone done it? He does have private health insurance so could ask to see one of their GPs (which I think would be a good idea). Not sure where else to ask for help. Dad is reluctant to go behind his GP's back.
Sorry for the long winded post.... looking for a few suggestions really.
Many thanks
Hannah
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hansyhand
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Your father absolutely needs to be seen by a hematologist who specializes in MPNs. MPNs do in fact run in families, thus the term "Familial MPNs." There is active research in this area. Here are a few links. There is more on this topic.
The symptoms you listed for your father are consistent with a possible MPN. It could, of course, be something else; however, since you have PV ruling out a MPN driver mutation is an essential first step for your father. Assuming you are JAK2 positive, the first step is to check specifically for the JAK2 mutation. Any doctor should be able to order this simple blood test.
It is very important to see a MPN Specialist rather than a regular hematologist. Most doctors are not up-to-date on the current research on MPNs. These are rare disorders and most docs, even hematologists, do not have the KSAs to provide optimal MPN care. Here is a list of docs with the requisite MPN expertise. mpnforum.com/list-hem./ .
FYI - I am JAK2 positive and have PV (progressed from ET). My daughter is also JAK2 positive (ET progressing towards PV). My son has idiopathic erythrocytosis (JAK2 negative). My brother had a high-grade B-cell lymphoma treated last year. We all also carry the NF1:c5425C>T gene mutation. Genetics most certainly does matter in MPNs and other hematologic disorders.
Please do let us know how your dad (and you) get along.
If your dad has private insurance then I would definitely ring them and get their advice as to a second opinion and ask for a referral to a Haematologist . don't take no for an answer.
I see no reason why your father cannot ask his regular GP for a private referral to see a haematologist to check out his abnormal / unsatisfactory blood counts and the enlarged spleen. That would be perfectly in order. It sounds like he needs a raft of blood tests, ultrasound etc to establish what is going on. And I wouldn’t be hanging around! Failing that (and why would any reasonable GP refuse?) then try getting into ‘the system’ via his insurers online GP service if they have one or a private hospital (somewhere reputable!) walk-in clinic.
The fact that you have PV should raise red flags. While MPNs do not automatically run in families there is evidence (and ongoing research) suggesting there may in some cases be a familial link.
I don’t know where you live but certainly in London I know of very respected haematologists who would be happy to refer on to Guys if necessary (Prof does not have a private list). Hope you have some success.
There could be a number of reasons for his symptoms, but it definitely couldn’t hurt to see a hematologist. As Hunter has taught me, it’s much better to be proactive in your own health care and it will give you peace of mind to finally figure out what is going on. Good luck. I hope you find answers soon.
It’s not at all long winded. I find it difficult to understand why with those counts he hasn’t been referred to a heamo. Have you spoken to your dad about a possible MPN?
I think you can request to see a consultant. I’d do it sooner rather than later because of the waiting list.
I looked into a private heamo. Yes they are around but check with the health insurance first.
My initial heamo did private but not many because the treatments ie blood test etc mount up.
When I saw an NHS consultant I got in touch with my private insurance and had the endoscopy colonoscopy and spleen scan done privately.
I'm not sure if anybody will see this but thank you to everyone who responded to my query. It gave me the confidence to push a little more and Dad has been diagnosed with mantle cell lymphoma and is now discussing treatment. This really is a very valuable little community! Thank you x
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