How does one tell if pv is genetic?

Polycythemia Vera
#1

I have PV (polycythemia vera) and am getting regular phelebotomy’s. I also went through radiation therapy for breast cancer.
This is how the PV was diagnosed (because the tamoxifen pills were turning my feet black). About 25 yrs ago I was in the hosp. and the dr. told me my red blood cells were enlarged and mis-shaped, but he was stumped and nothing further was said or done about it. I don’t know if it was the beginning of PV or not - but am mystified all the same. My older brother had high iron and had to get blood draws regularly (once a month) - but later traveled oversea’s to work and had to forego the treatment. He died last year from an aortic tear and pulminory embolism. I wonder if he had PV and did not know it. On my mother’s side of the family (her uncles and father) all passed young from heart conditions (in their 40’s). . Is it possible they had PV, the gene passed on to my mother, skipped a generation, and was passed on to my brother and myself? I have 3 other brother’s and children I am concerned about if this is true. I am confused. The Dr. ordered 2 sets of blood draws one wk. apart from each other, and then I became anemic. I go back for a CBC and most probable Blood Letting in about a week. I actually feel something is not right now - red face - burning feet - head aches -
etc. Also, my platelets go up after every session, though still in good range, I believe.
How does one tell if it is genetic?

Good Luck to All and Thank You !
~ poetry ~

#2

Hi, My Mom had PV. She didn’t know it, but had all the symptoms,and it turned to blood cancer. If she’d beentreated, it may not have turned to cancer. She was 86, and actually died of heart failure. I now have PV, and tested positive for the Jak2 Gene. There is a type of PV that is not inherited, the cause is unknown. That is why some think PV is not inherited. I definitely know mine was passed down from my Mom.Also, If I live to be 86 as she did, I will consider myself lucky. So far, my symptoms have been minimal.

#3

A mutation in the JAK 2 gene causes PV. The JAK 2 gene produces an important protein involved in blood production. Doctors and researchers do not know what causes the JAK 2 gene to change. The mutation of the JAK 2 gene occurs after conception.

It is NOT passed from parent to child.

The mutation of the JAK 2 gene cannot be reversed.

This information was taken from The US Department of Health & Human Services & the National Institutes of Health… (2008), http://www.nhlbi.nih.gov/health/dci/Diseases/poly/poly_causes.html

With that government information said, my mother told me that my great-grandfather had it… she said that it skipped a generation… I also had a note from a PV CarePlace member who instructed me he has two great relatives who had it and his doctor told him that it IS heriditary…
So, I wish that the government and these doctors would get together and straighten this out…
I would really appreciate it if you would put this on your board so that all the PV people will know that our family and doctors are telling us that it’s hereditary, but the official US goverrnment statement is that it is NOT hereditary… unless, I’m reading that page wrong… then, I would appreciate it if you would post this so that other can see it and tell me what I’m missing when I read it…
Thanks again for you help…
My board doesn’t have these problems… http://www.mcgrew-fam.net/GOVBB/
and you can vent about government issues at the same time… LOL…
This is the SECOND time I’ve posted this information and it’s associated request for assistance understanding this dissociation of information…

#4

It is hereditary, my grandfather passed it on to me and my 1st cousin was diagnosed at 19, she only has the reds up. I was diagnosed over a year ago and just got out of the hospital today which is Sept 10 with 4 blood clots in my left leg. My PV showed all my numbers were up, red, whites and Platelets, but the hydroxyurea has lowered these to normal figures. So what cause the blood clots now? The Doctor in the hospital told me I have diverticulitis and it may be responsible for the clots and I may have Colitus, which I know will cause a clot. I see a gut doctor in two weeks to do look at my colen. What caused the colen problem, could it be the Hydroxyurea or something I’ve had a while. We have to worry about clots, but how can you have one when your figures are below a normal persons at this time?

#5

Got more information from the experts…

On behalf of the National Heart, Lung, and Blood Institute (NHLBI) Health Information Center, thank you for your recent e-mail regarding the Diseases and Conditions Index (DCI) article on Polycythemia Vera (PV).
We have consulted with our scientific staff about the cause of PV. Most cases of PV are not hereditary, but it may occur in some families due to a predisposition of JAK2 to mutate. We plan to revise the article as follows:
“Polycythemia Vera (PV) is also known as primary polycythemia. It begins with a change to the DNA, a molecule that forms genes - the hereditary material of the cell. This change is called a mutation. A mutation in the JAK 2 gene of some blood cells causes PV. The JAK 2 gene produces an important protein involved in blood production. Doctors and researchers do not know what causes the JAK 2 gene to change. The mutation of the JAK 2 gene occurs after conception. It is not passed from parent to child, but there may be a tendency to mutate in some families. The mutation of the JAK 2 gene is not reversible.”

It sounds to me like that means that the mutation in the JAK2 gene is NOT hereditary… HOWEVER, it’s ability to mutate is hereditary… That’s confusing… I’m just gonna’ tell people that I got it from my great grandpa and it’s hereditary…

#6

I hear its predisposed, but I don’t believe that radiation or exposure to chemicals sets this disease off, or causes it. Somewhere down the line it has to be hereditary. Researchers know it skips a generation from grandparent to grandchild, what age it starts to show its ugly head, no one knows. But I hear from some doctors that there is talk of a cure on the horizon, and in the near future, and that being not just this disease, but forms of cancer as well, only because researchers are finding out about this genetical mutation and how it skips a generation they can study the cells that mutate from our grandparents to us. If this was a major disease, meaning widespread like Cancer and diabetis, they would have already found something better than Hydroxyurea, etc. They only have several drugs to combat this disease. My doctor said last year that he see’s no reason why I can’t live a normal life, normal to me is not itching, swelling, turning red and getting blood clots when your figures are lower than your doctors because of the Hydrea. You have to take charge of your own body and not take for granted everything your doctor says, because all doctors seem to tell a different story to me.

#7

Thanks for all the replies. I am wondering just what exactly is Jak2 Mutation? How do they test for it? I think the docs in this town are really not with it, even though I do see a hematologist/oncologist. I rarely see her. They take the blood work, the dr. looks at it, and sends me to the chemo room where they do the blood lettings.

Well, lately I’ve been feeling real real bad - no energy level at all. I’ve been so tired, I told the nurse I wasn’t sure I could even make it to the dr apt. Then they ordered a
ferritin test. Why did they not do this before?

So - it came back at 5.1 (very very low). I had to have an hour and a half iron infusion.

The nurse said this is really backwards. She’s never seen this happen before. The numbers (hem./rbc/etc.) are slowly climbing since the last letting, and they said in one month I will be due for another phlebotomy. Of course, the doc always orders 2 of them in 2 weeks time.

I am only 5’3" , weigh 100 pounds. I wonder if they are taking too much blood?

Very confused indeed.

Does the iron go low (is this normal?)
One nurse told me when there are so many enlarged red cells, she thought it would mean an iron overload. But . . . I’ve read differently in some places.

Why would it be so low? 5.1 feels awful - no energy at all and overwhelmed at the tasks at hand. Spent alot of tears of frustration.

After the iron infusion yesterday, had trouble sleeping last night - omg, felt real hot, uncomfortable, tossing, turning, and finally got up at 4 a.m. Have a sore on the roof of my mouth that was not there before the infusion.

I don’t know what is normal. I’m not even sure what is going on. lol. However, it is
driving me nuts, as I’m sure it is all of you.

Could be genetic. Why would so many have
relatives from the past generations who had
blood/heart conditions? Guess they didn’t know to test for such a thing back then.

Has anyone had phlebotomy’s , then later iron infusions, or is this abnormal?

Sure wish I could see a good dr. in some other city. This small town offers little.

I pray a cure will be found soon.

No one has ever discussed Jak2 to me, nor tested me for it to my knowledge. As I said , I am not even sure what that is.

Thank You all for responding. Perhaps we can help each other learn.

~ poetry

#8

Go find a good hematologist. Your hematocrit level should be around 43 in a woman, 45 in a man. My doctor looks more at the hemoglobin level and everytime I see him I get a copy of my blood levels and keep them in a binder. My whites, platelets and Red cells were high. My whites at one time were 5 times the normal range, should be around 4000, mine where 27,000 at one time. Research at the Mayo clinic and they will tell you what normal ranges are. My printout from my doctor tells me the normal ranges. You feel tired because your iron levels are to low. The heart loves low iron levels, but fatigued is a problem. When you give a pint of blood, the plasma comes back in a day, but the iron may take a month. If your doctor gets your figures at a more normal range, then you will fill fine. Your hemaglobin should be around a 15-16, if you want a printout of mine, I can scan it and send it to you. Are you sure that you only have Polycythemia, some people have other things like hemacromatosis(High Iron). You need a good doctor and don’t play around with this. My figures are normal and I have 4 blood clots in my left leg, diagnose with dvt, now. I am a healthy 47 year old man that works out on a regular basis. I am on 2 hydrea’s per day with no blood letting, and now warafin to take care of my dvt. Also said I may have Cholitus, have to go to a colen doctor in a week. Send your email to bulldawg45@comcast.net and I will send you a normal range indicator.

#9

Hi, I haven’t been back here for a while. The Jak2 gene mutation is the cause of inherited PV. If you are tested, (Simple blood test) and don’t have the mutation, your PV is acquired, not inherited. I am in California, and my Hematologist stopped taking blood draws, and started me on Hydroxyurea. It works to keep my blood at a good level. I’m tested with a CBC, once per month. The hematologist gets results and will call me if anything is wrong. I believe it’s not good to just continue with Phlebs, cause it can make the problem worse. I was also diagnosed with gout, which sometimes comes with PV or with arthritis. I now know that when my fingers swell and are painful, I am having a gout flare up.

#10

HHi, it is now april of 2015. I haven't had too many bad symptoms from the PV since being on Hydroxyurea. However, lately, have had an itchy stinging rash on my chest. Being a woman, it raises worries of breast cancer. However, I have heard all PV patients have itchy rashes. Have any other women had this type of rash? I will be appreciative of all help. I wonder if it could just be a rash, and have started using spray on benadryl.

Harris