MR. KOJO NNAMDIThe last time pulmonary hypertension made national headlines, it was because of a deadly diet drug combo called Fen-phen in the late 1990s. It still isn't very well known and many people diagnosed with pulmonary hypertension never heard of it before their diagnosis. Yet, it's associated with a number of different illnesses including sleep apnea, lupus and sickle cell anemia, along with many lung conditions and pregnant women are told that they're at a higher risk for the disease.

MR. KOJO NNAMDIA rare and very deadly form with no known cause strikes young women almost exclusively. Unfortunately, it's often missed by doctors. While there's still no cure, diagnosis and treatments have improved over the past decade and there are now nearly a dozen drugs to manage the disease. Here to shed some light on this little known illness is Stephen Mathai, an assistant professor of medicine at the Johns Hopkins University School of Medicine. Stephen Mathai, thank you so much for joining us.

DR. STEPHEN MATHAIThank you for having me.

NNAMDIAlso with us in studio is Debbie Castro, director of volunteer services at the Pulmonary Hypertension Association. Debbie Castro, thank you joining us.

MS. DEBBIE CASTROThank you for having me.

NNAMDIIn case you like to join the conversation, you can start calling right now. What do you know about pulmonary hypertension? Have you or someone you know been diagnosed been pulmonary hypertension? Call us at 800-433-8850. Stephen, many of us read about the controversy at a St. Joseph's Hospital in Phoenix, Arizona.

NNAMDIThat Catholic hospital performed an abortion to save the mother's life. She was diagnosed with the pulmonary hypertension, which can be associated with pregnancy. Tell us a little more about what you know about that story. It seems to have resulted both in that hospital no longer being associated with the Catholic diocese and the excommunication of a nun who sat on the ethics committee of the hospital and consented to the abortion.

MATHAIYes, well, I think it's a very controversial issue and I want to focus on the medical aspects of it. The details are not fully available. But in general, pulmonary hypertension in a pregnant woman is a very serious condition and I think...

NNAMDIThe bishop in this case apparently did not consider it to be a fatal condition.

MATHAII think it depends on the details of the medical case so I wouldn't want to comment on that in particular. But there can be instances where pulmonary hypertension is present and be a significant risk to both the mother and to the baby.

NNAMDIFor those of us who may have heard of it, but don't really know what pulmonary hypertension is, and that's frankly a lot of us, can you give us an idea of what's happening in the body?

MATHAISure. So it's a very complex process, but to put it in a couple of words, it's essentially high blood pressure in the lungs. And it can happen in the absence of high blood pressure in the rest of the body or it can happen in combination with high blood pressure in the rest of the body. If you think about the heart and lungs and the blood vessels in your body as kind of a circuit and blood returning to the right side of the heart from the veins, the right side of the heart that has to pump the blood through the lungs to pick up oxygen.

MATHAIWhich in turn takes blood to the left side of the heart and the left side of the heart pumps the blood to the rest of the body. Pulmonary hypertension is high resistance in the pulmonary system, in the blood vessels that connect the heart and the lungs. Regular hypertension or systemic hypertension is high resistance in the arteries that lead away from the heart to the rest of the body.

MATHAIThe challenges that we have with pulmonary hypertension can be with diagnosing the disease and then also with treating the disease because we have limited medications that can affect the pulmonary vascular in the absence of affecting the systemic vascular.

NNAMDIDebbie, back in 1998, your sister was diagnosed with idiopathic type A, a very deadly form of pulmonary hypertension that mostly affects young women. What were her symptoms?

CASTROIt's very interesting. Ten years before she was diagnosed, she actually fainted climbing up stairs. And when I started working for the Pulmonary Hypertension Association in 2004, her story was very common to other patients. Fainting, we actually call it top of the stairs flop, when you climb to the top of the stairs, you fall down and pass out. You don't have enough oxygen in your body.

CASTROThere's also -- your lips can turn blue and that -- my sister, she was so sick when she was diagnosed, it was at the very advanced stages. The doctor said she would have six months to live if she wasn't put on a treatment immediately. And so at her stage of diagnosis, she was having seizures. But the common symptoms that she also exhibited earlier that they couldn't determine that it was pulmonary hypertension...

NNAMDIBecause it's my understanding that the doctor she saw at first didn't suspect pulmonary hypertension. She was misdiagnosed how many times?

CASTROTwelve, thirteen times. They told her that she needed to exercise. They told her that she was getting older, she had just had three children so they told her a lot of different things. And it's a disease that affects -- everyone can get it, but it primarily affects women in their childbearing age. So after three kids, the symptoms became very aggressive and very persistent and so she was passing out a lot, chest pain, dizziness and really the biggest thing that I noticed was that she just had no energy.

CASTROShe couldn't get out of bed. She couldn't get off the couch. She couldn't even eat. She was throwing up because even digesting food was too much exertion on her heart.

NNAMDIHow long was it before she was correctly diagnosed, even as it got progressively worse?

CASTROProbably two years, one to two years, before the symptoms became more and more...

NNAMDIAnd by then it was advanced?

CASTROYeah, it was so late in diagnosis that we thought she was going to die and we didn't know what she had and we were all worried.

NNAMDIStephen Mathai, how common is that kind of misdiagnosis?

MATHAIUnfortunately, it's more common than we would like. I think with recent awareness and work of the organizations like the Pulmonary Hypertension Association, there is more of an awareness within the medical community. But in general, 10, 15 years ago, this would not be uncommon story. The problem is that the diagnosis really hinges on suspecting the diagnosis and many times the presenting symptoms is as simple as shortness of breath.

MATHAIWhen that is the presenting symptom, more common diseases or diagnosis are considered because they're much more common. Asthma, COPD, emphysema, those types of diseases are much more common than pulmonary hypertension and would lead a physician down -- or a healthcare provider down that road of diagnosis first. And you may find some abnormalities in pulmonary function tests that would lead you to think that if you treat those types of diseases, the person might feel better.

NNAMDIAwareness among doctors of the signs and symptoms of that type of pulmonary hypertension that Debbie's sister had has been an issue. Is that getting better?

MATHAII think it is. Now, Debbie's sister presented with, unfortunately, very late stage symptoms. Syncope is a very late symptom of the disease and that's passing out. And I think that -- when that happens where obviously someone has very advanced disease. But I think emphasizing to the medical community to be cognizant and aware of the symptoms that may not improve with simple measures or simple treatments are underlining of other diseases or other more common diseases should lead a physician or healthcare provider to think about pulmonary hypertension.

NNAMDIAnd Debbie, all of this led you to start working for an organization that's trying to address this issue of recognizing symptoms and educating people about what pulmonary hypertension is. Tell us a little more about what the Pulmonary Hypertension Association is and does?

CASTROSure. It’s a national non-profit organization dedicated to research, education, support and awareness raising. And what you mentioned about medical professionals becoming more aware of the symptoms and more aware of the disease, that’s something that our organization is dedicated to doing. We actually have a perceptive ship program, a tour around the country to 30 cities to bring local doctors who -- like, my sister may have seen it and not realize what it actually was and connecting them with pulmonary hypertension specialists like Dr. Mathai here, who knows a lot about pulmonary hypertension and sees hundreds of doctors.

CASTROAnd we even have an online university for doctors to visit to get CME credit, CEU, and to learn about what pulmonary hypertension is. So all of our resources are dedicated, a lot of our resources are dedicated to early diagnosis and that's -- part of it is medical education and the other part is awareness raising. So telling the community what these symptoms are, what PH is so that a patient can advocate -- when they're going through this cycle of misdiagnosis, you know, it might be something else.

NNAMDIWhat do you know about pulmonary hypertension? Give us a call, 800-433-8850 or answer that question at our website. You also might have a question of your own so you can send us a tweet or an e-mail to kojo@wamu.org. Have you or someone you know been diagnosed with pulmonary hypertension? Here’s Lauren in Gaithersburg, Md. Lauren, you're on the air. Go ahead, please.

LAURENHey, Kojo. Love your show. Thanks for taking my call. I actually died about just over a year ago from six massive blood clots and pulmonary hypertension was one of the things that I was left with. I was under the assumption that it was an after effect and maybe not a cause.

NNAMDICare to comment on that, Stephen Mathai?

MATHAISure. Obviously, without knowing the details of your case, it can be associated with pulmonary hypertension, that is, blood clots in the lungs or pulmonary embolism. And about four percent of people who have blood clots in the lungs, at about two years following the blood clot, they will have evidence of pulmonary hypertension. Now, people can also develop pulmonary hypertension at the same time that they develop a blood clot because of the pressure that builds in the lungs with a blood clot.

MATHAIAnd in most cases, in fact, in over 95 percent of the cases, pulmonary hypertension goes away when that happens. But unfortunately, it sounds like you might be in the five percent in which pulmonary hypertension persisted.

NNAMDIPeople who hear about the form of pulmonary hypertension that strikes young women may be rushing to the internet right now wondering if they might have the symptoms. What advice do you give to such people, Debbie?

CASTROThere's a lot of old information on the website -- on the web and I would encourage them to visit the Pulmonary Hypertension Association's website, which is www.phassociation.org. We have information set up for care givers, for patients and for medical professionals. So it's -- it's up to, you know, the individual visiting our website to see what kind of information is available to them, but it's all accurate and vetted through our council of experts.

NNAMDISteve Mathai?

MATHAIYeah. And one thing I'd just like to add to that is that when someone goes to the internet and types in pulmonary hypertension, much of the information...

NNAMDIWhich I have done. (laugh)

MATHAI...much of the information that comes up is about a specific form of pulmonary hypertension called pulmonary arterial hypertension for which the medications that you mentioned before are approved by the FDA. But there are many other forms of pulmonary hypertension that are far more common so I'd like the encourage the listeners to kind of take that in consideration when they're reading the internet.

NNAMDIIf someone, for example, has shortness of breath, what should be ruled out?

MATHAIMore common diseases, asthma and COPD are going to be the most common causes of shortness of breath in an individual -- in an adult. So those diseases should be evaluated.

NNAMDIWhat symptoms would cause a concern about pulmonary hypertension?

MATHAII think shortness of breath with chest pains, shortness of breath with lightheadedness, with perhaps, unfortunately, syncope, which could be a sign of late or progressive pulmonary hypertension. Swelling in legs or swelling in the abdomen are all things that can happen with pulmonary hypertension.

NNAMDIHere is Tony is Washington, D.C. Tony, you're on the air. Go ahead, please.

TONYWell, I'm on a mobile phone so if the connection's a little bad, I apologize. I wanted to thank the doctor from Hopkins. You and your colleagues saved my life. I had -- I have pulmonary arterial hypertension and one of your colleagues, Dr. Grgas, finally -- he was the one who got the diagnosis right after I saw cardiologists and pulmonologists all throughout the Washington area and he finally got it right. And, you know, it really takes an expert to get it diagnosed correctly.

TONYBut I had all the same things that all of you are talking about, blue lips, blue fingers, passing at the top of very short flight of stairs, maybe just five, you know, six steps. And on my 50th birthday -- I'm 54 now, but on my 50th birthday, I couldn't even walk ten feet without falling down. And I just want to encourage people who are listening, you know, there is a lot of treatment for it now. It's a difficult disease. It's also a fairly rare disease (word?) getting to the right people and certainly the folks at John's Hopkins did a lot to help me.

NNAMDIThank you very much for your call, Tony. We've got to take a short break. If you have called, stay on the line. We will get to your calls. If not, the number is 800-433-8850, or you can go to our website, kojoshow.org, and join the conversation there. We're talking about pulmonary hypertension. I'm Kojo Nnamdi.

NNAMDIWe're talking about pulmonary hypertension with Debbie Castro, director of volunteer services at the Pulmonary Hypertension Association, and Stephen Mathai, professor of medicine at the Johns Hopkins University School of Medicine. Steve, the form of pulmonary hypertension that Debbie was talking about is rare, but there are many different forms of the disease and it's often caused, it would appear, by, or associated with, other illnesses. It's been linked to autoimmune diseases like HIV and lupus and, of course, it's also a problem for people with lung diseases like emphysema, correct, emphysema?

MATHAIYes. It -- that's what makes it a fairly complex disease. Normally, when someone presents with shortness of breath and the thought of pulmonary hypertension is considered by the provider, and echocardiogram or ultrasound of the heart is performed. And while that can suggest the presence of high blood pressure in the lungs, it doesn't tell or give us the etiology or the cause of it.

MATHAISo I think it's important to know that when someone has an echocardiogram and the report is of pulmonary hypertension, it really doesn't help us that much to determine what the causes are. The most common cause of pulmonary hypertension in the United States is gonna be problems with the left side of the heart. So if you have -- someone has a diagnosis of heart failure and has a low ejection fraction or the ability of the left ventricle is impaired, then that can lead to pulmonary hypertension, high blood pressure in the lungs. And that, by far, is the most common cause in the United States.

NNAMDIJoining us now in studio is Gregory Kato head of the sickle cell disease vascular disease section at the National Heart, Lung, and Blood Institute. Gregory Kato, your area of research is sickle cell anemia. How does that related to pulmonary hypertension?

MR. GREGORY KATOWell, Kojo, studies that have been done at Howard University and have been continuing on in collaboration with the NIH, National Heart, Lung and Blood Institute in our group, have shown that in adults with sickle cell disease, about nine percent of them have pulmonary hypertension when they're screened for -- before developing any symptoms. And about another 24 percent have abnormally high pressures in the lung that are not quite to the level of being diagnosed with pulmonary hypertension, but are still abnormally high.

MR. GREGORY KATOThat's makes almost a third of adults with sickle cell anemia that have high pressures in the lung.

NNAMDIHow dangerous is pulmonary hypertension for someone with sickle cell disease?

KATOWell, at least we can say that those adults who have high pressures detected by -- in an echocardiogram are at increased risk for dying younger than sickle cell patients who don't have the high pulmonary pressures. In fact, it's about ten-fold higher risk of dying younger. We don't know for use that those patients are actually dying of pulmonary hypertension as opposed to other complications of their sickle cell disease that they developed in addition to the pulmonary hypertension, but we do have that suspicion.

NNAMDIDebbie Castro, treatments for pulmonary hypertension have come a long way since your sister's diagnosis a decade ago. What was she given?

CASTROShe was given Flolan, which is a very aggressive treatment that is administered intravenously in a -- through a line in her chest. And with three small children running around, that line had a lot of infections and she was hospitalized because of it. It's also a treatment that has a half -- has a very short half life so it had to constantly be infused. So she had to carry a fanny pack around her 24/7 with the medicine being administered directly.

CASTROAnd then, in addition, at the time it needed to be refrigerated so -- or it needed to be kept cold so she had to have ice packs. And at the same time, she has Raynaud's Disease, which is a blood circulatory disease that leaves her fingers and feet susceptible to the cold. So having that, it was difficult for her to handle her own medication. She had to mix it every night. It took her 20 minutes to a half an hour to mix and she was so tired at the end of the night that she had to train her husband and her eldest daughter to mix the medicine for her for the next day.

CASTROIf her machine didn't work, if her line came undone, she'd have to go to the emergency room immediately. She had to educate the local ER on what to do if she passed out or if she had an emergency, they could not turn off the line, she would die.

NNAMDISteve, there's still no cure, but what would be a typical treatment today for an advanced case like Debbie's sister's?

MATHAISo I think even today the first choice for a patient who presented with Debbie's sister's systems would be intravenous medication like Flolan. We do have other medications that now are a little bit easier for patients to handle, perhaps with now a room temperature stable version of the Epoprostenol or the Flolan so it doesn't have to be kept cold. There is another medication called Treprostinil or Remodulin which has a longer half life so you have a little more wiggle room when and if the line becomes infected or dislodged or the pump malfunctions.

MATHAIBut in general, the real advancement in the past ten years has been the development of oral medications for the disease and actually also inhaled medications, which work by different mechanisms on the blood vessels in the lungs to reduce the pressure in the lungs to allow the heart to work better.

NNAMDIGreg Kato, are the treatments for sickle cell anemia patients with pulmonary hypertension essentially the same as other pulmonary hypertension patients?

KATOWell, that's still being defined. There aren't that many studies that really guide us in whether all of these medications work in patients with sickle cell disease. We've tried them in general. In our program, we seem to see effectiveness from them. The first step we usually take, though, when we suspect that a sickle cell anemia patient has pulmonary hypertension is to first give some sort of treatment that helps to make their sickle cell disease milder on the rationale that sickle cell disease is contributing to the risk for pulmonary hypertension.

KATOBut then, we've also used these same mediations that Dr. Mathai has talked about, especially the oral medications to start with or the intravenous medications when the condition is quite severe, and we've appreciated a fair degree of success in those patients and they seem to live longer with those treatments.

NNAMDIOn to the telephones. Here is Kathleen in Alexandria, Va. Kathleen, you're on the air. Go ahead, please.

KATHLEENHi. I'm a pulmonary hypertension patient, I guess I would say. I do go to Johns Hopkins and they're absolutely wonderful and I have participated with activities with the Pulmonary Hypertension Association. So I just wanted to call in and thank you so much for addressing this topic on the air, raising awareness is so important. It did take me quite a few months to be diagnosed, but I know that that's nothing compared to most patients. And it's just -- unfortunately, it is a serious illness that has greatly affected my life.

KATHLEENI had just gotten married, was told I wasn't allowed to carry a pregnancy because it would cause mortality likely. I used to hike and go running and all of that and I can't do that anymore. However, I am on medications that have allowed me to maintain, you know, some normalcy. And so it's not easy, but I do want to thank you for raising the awareness and we just need to educate people about this so that more people can be diagnosed as early as possible, and hopefully more funding for research for treatments and hopefully possibly a cure.

NNAMDIKathleen, thank you for your call. Debbie how is your sister doing right now?

CASTROMy sister is doing great. She actually transitioned off the IV medication and onto oral therapy. So she's doing much better now. Not having a line in her chest has liberated her to be able to do more in her life. And she actually doesn't look sick. And I think that's part of the problem, too, with pulmonary hypertension is that people are walking around with PH and their employers take it for granted that they don't have the same energy.

CASTROEven their own family members take it for granted. So she's dealing with a lot of issues with societal awareness of her PH and her own family managing it. But luckily, she has a community of people that have pulmonary hypertension that she talks to online and on the phone and even her own support group in southern California. People that if she's in room with them, they understand that she needs to take a break or that this is just how life is. A new normal she has. And so it's been really good for her to have that community.

CASTROI know she's told me, and other patients I work with have told me, that without knowing another patient, it would have been very difficult to get through to have hope to want to continue.

NNAMDIAnd because of the rarity of this condition, this disease, Steve Mathai, I guess it's important that people are able -- patients, that is, to connect with one another.

MATHAIYes. If you take some epidemiologic data from other countries and in the U.S., the prevalence of the disease is about 15 per million for PAH. Now, the prevalence of pulmonary hypertension due to all causes is really unknown, but the specific disease PAH is pretty rare. And what we try to do is to have patients, when they come to our center to be evaluated, to connect with other patients who have similar diagnoses.

NNAMDIAny indication at all, Greg Kato, that because African-Americans suffer more than the rest of the population from sickle cell disease that the rates of pulmonary hypertension among African-Americans might be higher?

KATOI don't know if any information would suggest that, Kojo, but I would suggest that, in general, there's an emerging picture. And I would say all forms of PH, whatever stimulate it, that atherosclerosis or regular coronary artery disease, there are probably multiple risk factors that can mount up in an additive faction to create the burden of risk of when somebody -- why somebody gets pulmonary hypertension and how early in life they get it.

KATOAnd sickle cell disease seems to be no different. So it may actually be that some of the common vascular risk factors that we already know are a problem in those of African descent in this country, may act additively to the diagnosis of sickle cell disease to create this risk.

NNAMDIHe is Don in Fort Belvoir, Va. Don, you're on the air. Go ahead, please.

DONAll right. Thanks for taking my call. I'm sitting here in my car and I was just listening and right now my chest is pounding because what you said is just -- it's like opening up a floodgate inside of me. For the last ten years, I've had problems where I couldn't hardly walk up the stairs or I couldn't walk a block without having to stop and take a breath. And so they did the test to check for my heart because I was having chest pains at the same time. And I could do those stress tests on the treadmill.

DONI could run, but I couldn't walk. And they'd say, you know, there was nothing going on, they couldn't find anything. So finally, they said, well, it looks like you've got some asthma so they treated me for asthma. But anything I take for the asthma wouldn't do a thing to the symptoms.

NNAMDIAnd where are you now because we're running out of time. Where are you now in terms of the symptoms, Don?

DONWell, right now, they still haven't found anything out and this was just like opening a light for me. Because I had...

NNAMDIShould somebody like Don go to see a specialist, Stephen Mathai?

MATHAIIt sounds like it, you know, with the symptoms not responding to the conservative medications for asthma and for -- with his history of having what sounds like a cardiac stress test, yeah. It would make sense.

NNAMDII'm afraid we're almost out of time, but I do want to share this e-mail from Evelyn in D.C. "I grew up with pulmonary hypertension as a result of heart defect. I didn't get a diagnosis until I had a pre-graduate school physical with a full chest x-ray, but it didn't seem life threatening until I was pushing 30. Meanwhile, various gym teachers told me I was simply lacking in moral fiber and stick-to-itiveness because I resisted exercise. In 1976, I had open heart surgery to correct the heart defect and it was successful. In fact, the coughing stopped while I was still in the ICU."

NNAMDII'm afraid that's all the time we have. Stephen Mathai is a professor of medicine at the Johns Hopkins University School of Medicine. Gregory Kato is head of the sickle cell vascular disease section of the National Heart, Lung and Blood Institute, and Debbie Castro is the director of volunteer services at the Pulmonary Hypertension Association. We'll make sure we provide a link at our website to the association. Thank you all for listening. I'm Kojo Nnamdi.