Recently Diagnosed

[DarcyShepp]

Hi There,

I have recently been diagnosed with PV, I am JAk2 V617F positive 61% and my blood cells are all within normal levels, even my hematocrit.

3 years ago I suffered with portal and splenic vein thrombosis and have been on appixaban ever since. A few months before the thrombosis appeared blood tests showed inflammation in my blood and low iron, I was extremely fatigued and run down. I was prescribed iron tablets and I was on the pill. It was also during Covid so I was WFH and sitting at a desk for 8 hours a day so I wasn’t moving around as often as I should have been.

I’m 41 and have been told to carry on with the appixaban and go back to my hematologist in 3/4 months time.

My questions are, has anyone else been in this situation with normal bloods and if so, what treatment did you have, if any?

Should I be requesting a bone marrow biopsy and should I be seeking treatment to try and reduce the mutation? If this is possible?

Should I advise other members of my family to get tested for JAK2 mutations, parents, sister, daughters?

Thanks in advance to any responses

[marlenablue]

If your blood counts are normal, I'm curious how you were diagnosed with PV without a bone marrow biopsy? You should have a bone marrow biopsy and an MPN specialist. Ask your hematologist to recommend a specialist. My platelets were high for years, then my high red blood cells and hematocrit got me to a hematologist where I had a BMB and lots of other tests that pointed to PV. It is my understanding that this is not a hereditary condition and unless your family members are having blood count issues, I wouldn't think they need to get tested for the JAK2 mutation.

[DarcyShepp in reply to marlenablue]

Thank you for your reply, I think he is linking the splenic and portal vein thrombosis together with the JAk2 mutation to give the diagnosis but I agree that I need to see a specialist as this confuses me.

I had thought perhaps I have masked PV but I don’t really know enough about it.

I shall ask for a referral.

Thanks so much for your reply

[hunter5582]

As marlenablue indicates, there are a few things that do not line up. By definition, PV includes erythrocytosis when untreated. It is important to note that one can be positive for the JAK2 mutation without a MPN being manifested. This condition is known as Clonal Hematopoiesis of Indeterminate Potential.

It is very common for people with PV to be low on iron. With PV, the body is using up all the available iron to make RBCs. Venesections are used to treat PV with the intent to make the person even more iron deficient to control the erythrocytosis. Iron supplementation is usually contraindicated for people with PV since it results in the production of more RBCs.

Familial MPN clusters are know to occur. this is an area of active research. It is not typically recommended that relatives be tested for the presence of the JAK2 mutation unless they are showing signs of a MPN. Note that the JAK2 mutation is an acquired somatic mutation not a germline mutation that can be inherited. It is thought that the predisposition to acquiring the mutation may be inherited.

It is possible to reduce the JAK2 allele burden. Besremi and Jakafi have both been shown to have this benefit. Both medications have an indication for PV.

Given the diagnostic question, it is likely that a BMB would be prudent if you have never had one. This is something to discuss with your MPN care team. Hopefully, your care team includes a MPN specialist. MPNs are rare disorders and most doctors, including hematologists, have little experience with them. Here is a list just in case you need it. mpnforum.com/list-hem./

[Dan39]

I think you should go for BMB and also NGS panel test. Best of luck!

[DarcyShepp in reply to Dan39]

Thank you, what is an NGS panel test?

[Scaredy_cat]

About 25 years ago I had a portal vein thrombosis and an enlarged painful spleen. This was before the routine mutation checks. I don't know what my blood counts were. It wasn't until 2011 that I was diagnosed with ET

[Susana7]

Hi Darcy, I was diagnosed with PV at 51 following a red cell nuclear test (I have never had a BMB). This coincided with my periods becoming irregular. I had symptoms before (e.g. visual disturbances) and my MPN specialist said the periods probably masked the PV. My blood counts were normal until my periods became irregular. Then the platelets shot up. I have been on Pegasys for 9 years. It could be that you also have masked PV. Like others said, ask to see an MPN specialist. X

[DarcyShepp in reply to Susana7]

Thank you so much for your reply, I had read something similar about this and it worries me as I have just had a hysterectomy due to stage 4 Endometriosis. It will be nerve wracking to see what happens in the next few months.

[Pingi]

You may benefit by being reviewed by a hepatologist who specialises in vascular liver disease, such as David Patch at the Royal Free or Dhiraj Tripathi at QE in Birmingham. Both work with MPN specialists

[DarcyShepp in reply to Pingi]

Thank you, this is interesting as when I had the splenic and portal vein thrombosis my liver was apparently “not happy” and my spleen was slightly enlarged. I never really understood why

[Meatloaf9]

Hi, you have received some good advice.

I think you need an evaluation by a MPN specialist. You have a long time to live at your young age whether you have a MPN or not. An initial AB of 60% is pretty high, but my MPN specialist says not to treat my PV based only on AB.

My MPN specialist says that the best predictor of a future clot is a past clot, so you need some expert advice. A BMB may be indicated, listen to your specialist.

Best to you in sorting things out.

[DarcyShepp in reply to Meatloaf9]

Thank you, I’m finding it all so confusing, my hematologist seems to think I’m very low risk but I think he means because I’m on blood thinners and for some reason bloods are normal. Apparently when I had the clots 3 years ago my bloods were normal then too which just doesn’t make sense.

I’ve been drinking lots of water and eating healthy but I am so worried about the AB level getting even higher.

Like you have all said it’s time for me to seek specialist advice.

Thank you again for your reply

[user2021a]

Your story sounds like mine. I have Budd Chiari. At the time of first having issues my blood results were normal other than jak2 mutation picked up in blood tests (never had BMB and told wasn’t necessary). It’s only since hysterectomy that I’ve needed venesection and now going to start medication - previously low iron meant normal blood results

[Uzza]

Hi,

Yes, I have had normal bloods then with onset of prostatic inflammation I developed peripheral neuropathy, gout and fatigue. Since, I have had treatment for prostatic cancer and my PSA has dropped and so has cell and platelet count. I have the same mutation as you. My allele count is 14%.

Cheers

Uz

[DarcyShepp]

Thank you all for the feedback, I had my BMB last week and I am anxiously awaiting the results, I also had an abdominal scan which showed my spleen was enlarged to 19 cm’s which I know is very big. When I had the blood clots it was only 16cm’s!

I spoke to the hematologist again and he said I didn’t have the markings in my blood test for MF but with such a high AB of 61% and such an enlarged spleen I’d be lying if I said I wasn’t worried that the PV has already progressed.

I’ve still got normal Hemaglobin and Hematocrit, does anyone know if that is more common with MF? this disease is so confusing!