Guest: Dr. Ellen Ritchie and Finola Hughes
Presenter: Neal Howard
Guest Bio: Ellen K. Ritchie, MD is the assistant professor of medicine and a member of the Leukemia Program at the Weill Cornell Medical College of Cornell University and the New York Presbyterian Hospital in New York City. Dr. Ritchie graduated from Barnard College at Columbia University and received her medical degree from the College of Physicians and Surgeons at Columbia University. She completed her internship and residency in internal medicine and her fellowship in hematology and medical oncology at New York Presbyterian Hospital on the Columbia campus.
Segment overview: Segment 1: Rare Disease Day is February 28, and in this segment, Dr. Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, talks about a rare chronic and under-recognized blood cancer called polycythemia vera (PV), which is part of a group of rare blood cancers known as myeloproliferative neoplasms (MPNs).
Health Professional Radio – Polycythemia Vera
Neal Howard: Hello and welcome to the program. I’m your host, Neal Howard. Thank you for joining us today here on Health Professional Radio. Our guest today is Dr. Ellen . She’s associate professor of clinical medicine at Cornell Medical College with us today to talk about the rare type of blood cancer. Welcome to Health Professional Radio Dr. Ritchie.
Dr. Ritchie: Thank you.
Neal Howard: If you could give us a bit of a background about yourself. Have you always been interested in rare blood diseases?
Dr. Ritchie: Well, I’ve always been interested in blood diseases. When I was a training doctor, I really got interested in looking at blood under the microscope. It’s actually extraordinarily beautiful and that’s what led me to become interested in blood disorders. I like the complexity of patients who have myeloproliferative diseases.
Neal Howard: Okay. Now Rare Disease Day is coming up pretty fast next week, February 28th. What exactly is a rare disease?
Dr. Ritchie: Well, a rare disease is one that doesn’t happen to a lot of people. Polycythemia vera, the prevalence of the disease in the United States is somewhere around 200,000. Very few patients in the contrary all together have the disease and in fact, you could be diagnosed with this disease in some rural area and not know anyone else your entire life that would have this disease.
Neal Howard: If it affects 200,000 people or less or maybe a little bit more, it’s considered a rare disease and I understand that there are just a few thousand diseases that can be considered rare even though the people who are suffering from them, it affects their life quite deeply.
Dr. Ritchie: That’s correct. Anyone who has a disease however rare it maybe is certainly affected by it and certainly feels a need for treatment and a desire for treatment and a desire for people to take their disease seriously.
Neal Howard: Now we’re going to talk about this PV. Talk about this condition.
Dr. Ritchie: Polycythemia vera is one of small member of diseases that fall under the umbrella of a myeloproliferative neoplasm. It really is a disease where you’re making too many cells, you’re making too many blood cells. Polycythemia vera in particular, you’re often making too many red blood cells. Some of the other myeloproliferative diseases, you may be making too many platelets or too many white blood cells and these cause problems most notably propensity to develop a blood clot. All of our treatment for this disease is really aimed at lowering the risk of developing a blood clot over time.
Neal Howard: Too many red blood cells as opposed to too many white blood cells that are fighting something. Why are we producing so many blood cells? What causes this type of disease?
Dr. Ritchie: Well, there’s usually a genetic reason why you start to make too many cells. Something is turned on by your cells where you can’t stop reproducing. In polycythemia vera, they’ve actually identified a gene called JAK2 which has a mutation in it that often causes this disease, causes people to make too many red blood cells. It can also be seen in patients who make too many platelets but this genetic abnormality doesn’t allow your cells to turn off when they need to. They just keep reproducing.
Neal Howard: Are there symptoms that mimic other diseases, other conditions?
Dr. Ritchie: Well, one of the most common symptoms is actually fatigue which I think all of us can ascribe that symptom to us for one reason or another on any given day of our life, but fatigue, headaches, night sweats, some patients develop totally body itching, dizziness. All of these things are nondescript symptoms that you could ascribe to something else but they’re associated with polycythemia vera. Patients can also develop early satiety where they’re not as hungry as they used to be and weight loss which is unexplained. These are again relatively nonspecific and you don’t have a hint that a patient might have this problem until they go to the doctor and get a blood count which shows that the blood count is abnormal. At that point, most patients are sent to a hematologist.
Neal Howard: Okay. Now at that point, once it’s diagnosed, if you catch it early, is the treatment option a little less rigorous or invasive as opposed to finding out years down the road?
Dr. Ritchie: Well, you can have this disease and be alive with it for 20 years or more. The most concerning aspect of the disease is developing a blood clot and that’s the most dramatic presentation of the disease. When someone comes in with a stroke or a heart attack or a blood clot in their lung or a blood clot elsewhere which is an emergency type of symptom, this is the worst outcome for this disease and it’s a way that some patients can present. Certainly we like to diagnose patients before something like this happens because the effects of a stroke or the effects of a heart attack are not necessarily reversible in anyway. We really try and determine which patients may have the disease so we can prevent these bad things from happening.
Neal Howard: Symptoms that could be associated with anything, any number of things, can those symptoms persist for years and a person continually be misdiagnosed? They go in as you say for a stroke or a heart attack. Is there anything that can catch it early enough to stave off some of the effects of prolonged suffering?
Dr. Ritchie: Well, it’s really the blood count is very important because you usually see marked elevation in red blood cells or platelets or white cells. There are many reasons why that can happen, but you want to look at the whole patient. When you look at the whole patient and you determine that they’re having particular symptoms, that there’s no infection or there’s no iron deficiency or other problem that’s driving the abnormal blood counts, you have to look deeper. You need to do molecular testing and a bone marrow biopsy to see what the underlying problem might be. Hopefully if you make a diagnosis of a myeloproliferative disorder, you can start to treat them and the aim of that is really to reduce the risk of blood clot but in doing so, you hope to really reduce the symptoms that a patient has. Overall, this is a slowly progressive disease over time and the symptoms tend to get worst as the years go on, but we really try and treat patients in such a way to minimize these symptoms over time.
Neal Howard: Do you find that symptoms present sometimes in younger patients as if they were on in years? Does it ever get that severe in younger patients?
Dr. Ritchie: Well, sometimes even children can be diagnosed with polycythemia vera and occasionally children are usually on the basis of having a nondescript symptom like a headache in a child which is persistent with an abnormal blood count. We see young people also who had these diseases. I have a couple of patients who really presented with many miscarriages and there was an investigation as to why all these miscarriages had occurred and they were found to have polycythemia vera. There are patients who present who are completely asymptomatic who are going in to have a routine surgery and they do have a blood count done prior to that that’s abnormal. In all age groups, there’s a real spectrum of symptoms that patients presents with and the severity can change of those symptoms over time.
Neal Howard: What are we talking about as far as treatment options when it is finally diagnosed?
Dr. Ritchie: There are a number of possibilities. Some patients are treated with phlebotomy alone which is we actually take out red blood cells on a periodic basis to try and maintain their hemoglobin at a certain level. Sometimes we use medications where the point of the medication is just to decrease the red blood cell count or the platelet count or the white count. With the discovery of the JAK2 mutation, there are medications which actually have been approved by the FDA that target this JAK2 mutation and it’s really been an incredible life saver for people who have terrible symptoms of their disease. It can alleviate symptoms very, very well. There’s lots of options for patients. There are new options of course in development and we’re all excited to see what will happen in the next few years as the molecular revolution in biology continues.
Neal Howard: Have you heard any talk about possible genetic treatments for this disease as research into genetic markers and things of that nature progresses? Do you see any future in that progression and where can our listeners go and get more information about PV?
Dr. Ritchie: Well, for more information, I really recommend that they go to this excellent website voicesofmpn.com which will tell them a lot of information about their disease. I think in the world of cancer in general, not just rare cancer, this is a very exciting time because we are learning about mutations in many genes that cooperate to cause cancer. We are developing targeted medications to many of these mutations. At the same time, there’s really a revolution in immunotherapy trying to marshal our own immune system to help fight cancer. I think both of these trajectories are going to be really important in the cure hopefully over time of myeloproliferative diseases and related hematologic malignancy.
Neal Howard: Well, I sure appreciate you talking with us today doctor.
Dr. Ritchie: I’m happy to be here. Thank you for having me.
Neal Howard: Thank you. You’ve been listening to Health Professional Radio. I’m your host, Neal Howard in studio with Dr. Ellen Ritchie, associate professor of clinical medicine at Cornell Medical College. We’ve been talking about rare diseases as Rare Disease Day, February 28th fast approaches. Transcripts and audio of this program are available at healthprofessionalradio.com.au and also at hpr.fm. You can subscribe to this podcast on iTunes and listen in and download on SoundCloud.