For the past few (maybe more) years, Rebecca Reilly was experiencing some symptoms that were important clues that something was going on, but just what was a mystery. She had already been diagnosed with Hashimoto’s disease (an autoimmune disorder that causes the immune system to attack the thyroid) and thought that might be the issue.
Her symptoms included:
- Extreme fatigue
- Bruising easily
- Unbearable itching after taking a shower
- Terrible rash under her breast one summer
- Bleeding gums when she brushed her teeth
- Spontaneous nose bleeds
It wasn’t until last April that a blood test gave the most important clue of all and it had nothing to do with her thyroid. In the words of one of her doctors, Rebecca’s bone marrow was on fire. Bone marrow is a soft spongy material found inside some of your large bones. It contains stem cells that produce blood and other cells found in the immune system.
- Red blood cells, which transport oxygen throughout the body.
- White blood cells, which help fight infections.
- Platelets, which prevent excessive bleeding by helping blood to clot.
If Rebecca’s bone marrow was “on fire” it meant that it was wildly producing way too many cells. That’s a red flag for several serious blood disorders and so, she was referred to a hematologist or blood specialist, A follow-up blood test showed that she had a JAK2 mutation.
A JAK2 mutation develops spontaneously usually later in life, its cause/trigger unknown at this point. What’s important about it is that it’s an indicator of a rare blood disorder called polycythemia vera.
I spoke to Dr. Helen Ryan, a hematologist at New England Cancer Specialists, who explained what happens when you have a JAK2 mutation.
With polycythemia vera, close to 100% of people with it will have a JAK2 mutation. JAK2 is part of a pathway that tells stem cells to make more red blood cells, and it’s a pretty well-regulated system when it works. When you’re anemic, your kidney will sense that and will secrete a hormone called erythropoietin, which is a growth factor for red cells. It goes to the bone marrow and stimulates the bone marrow to make more red cells. What happens with polycythemia vera is the cells are exquisitely sensitive to even small increases in that EPO hormone. So, even though the body is not anemic, the little bit of EPO that’s around is driving the body to make too many red cells.Helen Ryan, MD, Hematology Specialist
And that is exactly what was going on in Rebecca’s body. She had polycythemia vera.
Classic symptoms include:
- Pruritus (itching, often after a hot shower)
- Night sweats
- Bone pain
- Shortness of breath
- Reddening of the face, or a burning feeling on the skin
- Feeling of fullness after eating a small amount (caused by an enlarged spleen)
- Pain in the palms of the hand and soles of the feet (caused by red blood cells traveling through smaller capillaries and veins)
Polycythemia vera belongs to a group of diseases known as myeloproliferative neoplasms (MPN). There are four major disorders in the group:
- Polycythaemia vera (PV) — bone marrow produces too many red blood cells.
- Essential thrombocythaemia (ET) — bone marrow produces too many platelets.
- Myelofibrosis (MF) — abnormal production of blood cells, causing scar tissue to form.
- Chronic myelogenous leukemia — bone marrow produces too many white blood cells, If not treated, it can lead to acute myelogenous leukemia.
With PV, as the red blood cells proliferate, they get so thick it’s difficult for them to flow freely through the blood vessels, increasing the risk of blood clots that could cause a heart attack, stroke, or some other complications such as liver failure.
There is no cure for PV, but with treatment, symptoms can be kept under control. The primary goal is to reduce the number of red blood cells.
In order to decrease a patient’s risk of having a blood clot, you want the hematocrit [red blood cell measurement] to be under 45. The way you do that is with phlebotomy — you actually draw off red blood cells in patients who are at high risk of thrombosis. And that is defined as anyone who’s had a thrombosis before the diagnosis or patients over the age of 60, who, generally speaking, are at higher risk of coronary disease. In addition to phlebotomy, we also use an oral chemotherapy drug called hydroxyurea to lower the blood counts. The last thing we do is put people on a low dose aspirin to help prevent [blood clots].Dr. Ryan
Rebecca has had a series of phlebotomies and her red count levels are good, but she’s still having breathing issues, fatigue, and headaches. Blood tests show that she’s low in iron, which is consistent with her symptoms.
Dr. Ryan explained that the aim of treatment isn’t to make patients anemic but they do want them to become iron deficient because if the body doesn’t have enough iron, it can’t make red blood cells. With time, some people will become less fatigued.
In the beginning, patients usually need frequent phlebotomies to remove the excess red blood cells, but they can reach a point where they’re not necessary or are needed less frequently. However, they will always need some level of the hydroxyurea. Another possible line of treatment is gene therapy, but it’s very expensive and has the same success rate as hydroxyurea, which is much cheaper. Both are lifelong treatments.
It’s a lot to deal with, but Rebecca is doing the best she can to take care of herself.
I’m taking it a day at a time. I’m grateful that it’s not, per se, life threatening. I can live with it. I’m glad that I’m in my 60s close to 70. If I were younger, I would be more afraid, because it can shorten your lifespan.Rebecca Reilly
She hopes that by telling her story, it will inspire people to become more aware of their bodies,
To become aware of things that are changing that aren’t normal to you and to advocate for yourself. To not minimize something that doesn’t seem normal for you. It isn’t just because I’m getting older that there was something wrong with me.Rebecca
For more information about polycythemia vera and other myeloproliferative neoplasms, Rebecca recommended the website The Voices of MPN.