Diagnosed polycythemia vera at 26: Any young PV patients out there?

I have not traveled in any high altitudes. He said based on my lab results that he is almost certain I have PV , as nothing else he knows of would cause my combination of results and that I may be one of the small percent that have it without the mutation.

@chorusgirl500
Sorry that you have to deal with this at your age. I’m 72 and have been PV JAK2 positive for 2 years.
It is a good thing that you have a Primary Care physician who recognized the problem and is helping you to find solutions. I had been feeling off for several years before I was finally diagnosed. Looking back on my blood work I had very high RBC, WBC, and platelets for several years. He never said anything about it and just prescribed blood pressure medicine.l it’s really just a miracle that I didn’t have a heart attack or stroke. I live and work in New York City, and one would suppose we had good doctors…I was in a small clinic in a small town in Minnesota (3500 people) having routine bloodwork done for something, and the RN there saw the blood work numbers at pretty much diagnosed me on the spot. I was in the hospital in Duluth a couple of hours later. There was a fairly good hematology Oncology Doctor there, but he had never seen a case of PV. He did do the textbook treatments and started with phlebotomy, aspirin, and hydroxyurea. But not knowing much about it, he also noticed my low iron and was also giving me high dose iron supplements. He also suggested that I should try to find someone at a research hospital that had a lot of experience in this kind of blood disorder. I found someone in Louisville, Kentucky at the University of Louisville. When I started there, he told me about what was going on which answered a lot of questions that I had been freaking out about for the previous three months. In that information is mainly that this is a manageable condition. It is classified as a cancer, but doesn’t act like what we think of it as cancer, it doesn’t spread to other organs, it doesn’t make tumors, etc. There are people that you will find on this message board, that have been living with PV for 30 years or more.
HU is a very inexpensive drug. A month supply for me if I didn’t have insurance would be about $40. So that is reassuring. Since the initial round of phlebotomy and Doctor visits, I now am going to see my hematologist about once every four months. I have not had a phlebotomy for over a year now. My worst symptoms from treatment are having days when I’m tired… On the other hand, I am 72 years old…
And the last thing that I’ll say is that medicine is moving quickly these days. Friends and relatives of mine died 20 or 30 years ago from things that are now easily treatable. I expect that all of these myeloproliferative disorders will be curable within the next 20 years.

@pineyb I think the classification as cancer is a really difficult part. People immediately ask me if im going to get chemo, the prognosis , etc etc. Ive honestly avoided using the word cancer when explaining it at this point because I just dont have it in me to explain it all again and again. I am very fortunate and grateful for my early detection, and im so glad you're living a good life. Its comforting to hear people have lived so long and medicine is improving. I think right now I am still processing everything. Everytime I go I drive to a cancer center and sit in a waiting room surrounded by people who are going through chemotherapy and I feel guilty for being there almost, like im not sick enough to be here. But also they look at me, and my age , and I get sad smiles and its hard. Thank you for your encouragement.

@nypara66 Hi! Thank you for your advice. Unfortunately I did not test positive for Jak2 so I am going to have to get a biopsy, I go back in January to schedule that and check my RBC levels again 🙁 I honestly think the biopsy is going to be the worst part, did you have one? Ive read online that its short and painful , but not unbearable. Im getting used to giving blood. I used to pass out at the sight of needles but after having to give blood 4 times in 3 months I've become a pro. Thank you so much again.

@chorusgirl500 There are different forms of polycythemia. Primary Polycythemia Vera generally involves an acquired mutation in the JAK2 gene. So, not having that mutation is actually a good thing.

Secondary Polycythemia, is generally caused, (loose interpretation) by an underlying condition in which your body senses it’s not getting enough oxygen and is calling for more red blood cell production.
Conditions such as sleep apnea, smoking or lung disease,obesity, hypoventilation, asthma,
chronic obstructive pulmonary disease (COPD), using
diuretics, the use of performance-enhancement drugs, including EPO, testosterone, and anabolic steroids
Other common causes of secondary polycythemia include:
carbon monoxide poisoning, living at high altitude
kidney disease or cysts.

Your doctor suggested a bone marrow biopsy which goes to the heart of the blood manufacturing site in the body…the marrow. I’ve had 13 of these done over the course of my leukemia journey. The biopsy of the marrow can give your hematologist an overall picture of the health of your marrow in being able to produce healthy blood cells.
If you do require this test, many clinics offer a mild sedation which lets you sleep through the procedure. If they don’t ask your doctor for a one time dose of an anti-anxiety med such as lorazapam. It can take the edge off the anxiety to help you through this.

I’m expecting they will also check your EPO blood level and check for kidney disease. What other tests have been run?

@chorusgirl500 There are different forms of polycythemia. Primary Polycythemia Vera generally involves an acquired mutation in the JAK2 gene. So, not having that mutation is actually a good thing.

Secondary Polycythemia, is generally caused, (loose interpretation) by an underlying condition in which your body senses it’s not getting enough oxygen and is calling for more red blood cell production.
Conditions such as sleep apnea, smoking or lung disease,obesity, hypoventilation, asthma,
chronic obstructive pulmonary disease (COPD), using
diuretics, the use of performance-enhancement drugs, including EPO, testosterone, and anabolic steroids
Other common causes of secondary polycythemia include:
carbon monoxide poisoning, living at high altitude
kidney disease or cysts.

Your doctor suggested a bone marrow biopsy which goes to the heart of the blood manufacturing site in the body…the marrow. I’ve had 13 of these done over the course of my leukemia journey. The biopsy of the marrow can give your hematologist an overall picture of the health of your marrow in being able to produce healthy blood cells.
If you do require this test, many clinics offer a mild sedation which lets you sleep through the procedure. If they don’t ask your doctor for a one time dose of an anti-anxiety med such as lorazapam. It can take the edge off the anxiety to help you through this.

I’m expecting they will also check your EPO blood level and check for kidney disease. What other tests have been run?

@loribmt Hi, thank you for your notes. We have already ruled out many of those secondary causes. I have been tested for sleep apnea. I do not have any lung concerns. I have never smoked or been around smokers or used drugs of any kind because my family has a history of addiction, I do not even drink. I live in florida which has no high altitudes and all my labs are coming back normal except for my RBC, WBC , Alk Phos , gran#, ANC, reticulotes, and erythropoietin, which is what is leading him to believe it is polycethemia in one form or another. Given my regular labs otherwise and my age there is no reason he suspects my kidneys and liver are not working exactly as they should. I was anorexic as a teen but was given a clean bill of health when I entered adulthood at a normal weight. I do struggle with hypothyroidism and have been in the process of losing weight ( no supplements , no medications just me and a nutritionist working with my thyroid and the gym) but he said this wouldnt have the kind of impact hes seeing, and my levels have been steadily rising for 4 years now ( I put off seeing the hematologist for financial reasons). Right now he does not currently see any cause. He did say that in about 30% of cases of Secondary PV the cause is never known. I have gotten genetic testing for the following , all of which has been negative, JAK2 V617, CALR, MPL and
JAK2 EXONS 12-15 and I am getting more labs done in January before he orders the biopsy. We needed another data point before my insurance would say the biopsy was essential to diagnosis.

@nypara66 Hi! Thank you for your advice. Unfortunately I did not test positive for Jak2 so I am going to have to get a biopsy, I go back in January to schedule that and check my RBC levels again 🙁 I honestly think the biopsy is going to be the worst part, did you have one? Ive read online that its short and painful , but not unbearable. Im getting used to giving blood. I used to pass out at the sight of needles but after having to give blood 4 times in 3 months I've become a pro. Thank you so much again.