What is PCD?

Transcription:

Deborah Howell (Host): Welcome to the show. I'm Deborah Howell, and today we'll be talking about primary ciliary dyskinesia or PCD a rare genetic condition that can lead to chronic lung, ear, and sinus infections, along with other disorders in children and adults. We'll learn about what PCD is and how it's treat. Our guest is Dr. Bugsu Ovunc, a pediatric pulmonologist at Children's Pulmonary Institute, Memorial Care, Miller Children's and Women's Hospital, Long Beach. Welcome, Dr. Ovunc.

Dr Bugsu Ovunc: Hello. Good morning. Thank you for having me.

Deborah Howell (Host): So wonderful to have you on. What exactly is PCD?

Dr Bugsu Ovunc: That is a really good question because that's the whole purpose of what we do to increase the awareness of PCD because just like you asked, most people have not heard about this disease. However, approximately 10,000 to 30,000 people in United States are living with this disease without acknowledging that they even have it. So, PCD is a rare disease, it affects tiny hair like structures, which are called Celia, that line our airways. When we say airways, it starts all the way from the beginning of our nose, goes all the way to our lungs, covering our entire airway system.

As I mentioned, it's a very common disease, but because it is so hard to acknowledge, very hard to diagnose, and we are just learning about the genetic basis of this disease, and recently coming up with the guidelines, how to manage and treat US disease, we really are trying to teach our physician population as well as patient population that this disease exists. So that we can help our patients living with these chronic, problems for years without acknowledging what the root cause is. And unfortunately, they were misdiagnosed with allergic rhinitis or sinus disease or immune problem or anatomical abnormalities of upper airways from their whole life.

But they still struggled to improve because the root cause of the studio is, was not known in those patients. And even though the other interventions can help them temporarily because it's not really the root cause of the disease, they are not completely improving, getting better.

Deborah Howell (Host): I understand. Now, although it's rare, what are the signs and symptoms of PCD?

Dr Bugsu Ovunc: So as I mentioned, it is hard to recognize and often misdiagnosed because it presents just like asthma or allergies or bronchitis. So people will often have features of ear infections, sinus infections, lung infections, because this is where the Celia are abundant. Therefore, if there is a dyskinesia, which means an abnormality of the moment of these Celia structures, then these organs get a lot of infections.

Deborah Howell (Host): Doctor, is it like the Celia are just laying down instead of being up and you know, moving around like they normally do?

Dr Bugsu Ovunc: So the Celia are, the propellants of any allergic or irritant structures in our airway. And they move a front to back motion, so that when we inhale smoke or an irritant substance in our airways, they help us get rid of it when they cannot move in that. Appropriate moment, front to back. and sometimes they just do like a swirling motion instead. Then the particles are really not being able to be cleared from the airway. So you still have the Celia moving sometimes, but if the movement is not effective, then it leads to airways in these organs.

But sometimes with some genetic, mutations of PCD, you don't have the Celia to start with, or you have decreased the amount of Celia. So even the ones that you have are, moving appropriately. You don't have enough of them, to lead to an effective airway clearance.

Deborah Howell (Host): Thank you for that answer. You really cleared that up. what should a parent do if they think their child may be at risk for having PCD?

Dr Bugsu Ovunc: Again, it's not a easily diagnosed disease, and even the physicians don't have much knowledge, about this, because PCD was only discovered about 30 years ago. Celia are so small structures that after the invention of transmission electron microscopy, which sees really small structures, that we were able to figure out that this disease is actually because of this ineffective moment of dyskinesia. Celia previously. People knew this disease as carte disease, so most of the physicians will be most, familiar with that name probably.

Carte disease means if somebody has frequent sinus infections, they have bronchiectasis, which is a finding on their x-ray, which shows that they had, recurrent pneumonias, which led to a lung damage as well as a heart laterality, disorder, which means that their heart is not on the left side, but on the right side of their chest. Then this three features, if they appear, together was called cartagoner disease. And a lot of physicians are actually, more, familiar with that. Although it does not address the Celia or the genetic basis of the disease, for example, ear nose throat stroke doctors are frequently seeing these patients because most of their presentation are ear and sinuses.

If they see the patient has bronchiectasis or having recurrent pneumonias or their heart placement is on the other side of their body, they will bring it, as a possible diagnosis. The same with pulmonologist. When we see those, patients when on the chest x-ray, we see their heart displaced on the other side of their body, and they have these features. We also have awareness of that. The heart doctors are also aware of cartagoner disease, but there are so many other features of PCD, that affects many other multiple organs, that not all the other subspecialty physicians may not even heard or may will not think about this when they run into these patients in their clinics.

Deborah Howell (Host): What are some of the health risks associated with PCD?

Dr Bugsu Ovunc: So as you can imagine, if somebody gets frequent ear infections, it will eventually lead to auto sclerosis, which means we have tiny bony structures in our middle ear, which enables us to hear. And because of recurrent infections, those little bones get sicks so they stop moving and which leads to hearing impairments also, every time you get an ear infection, there is always a possibility that it can expand to the inner ear. which can also affect the hearing. So hearing loss is one of the really, detrimental consequences, really first consequences of this disease. For the sinus infection, again, you are always congested. You always have a runny nose.

You get headaches, so it does not maybe, make your life shorter than expected, but it really decreases your life quality. And of course, to feel any relief, you have to go through multiple sinus surgeries. And even after the start, final surgery, you feel some intermittent relief may be, but then your symptoms will return. And in the lungs, the most feared, consequence of this disease is unfortunately bronchiectasis. The meaning of bronchiectasis is we have our airway in our lungs, and also the part of the lung, the meat of the lung, which actually does the air exchange.

So the part that does the air exchange is what is really the working part of the lung, whereas the airways are supposed to be small and only to pass the air from outside or the exchanged air from our lungs to outside. If airways get inflamed and infected multiple times, then the airways get eroded, they get enlarged, and they start to get enlarged in a way that they take away the space of the oxygen exchanging part of the work. Plus, if the airways are not clean and, crisp and, without any bumps, then the air goes in anot much more.

And so with bronchiectasis, the airways, have kinks in them, which leads to pooling of the airway secretions in there. And if you can think of a river that's flowing, which will get any dirt, if the mucus pulls in those kinks. The bacteria, viruses, or this outside RITs will unfortunately pool in these mucus pools and will lead to returning infections, making the bronchiectasis even worsen. And that is actually the light shortening Manifestation of PCD.

Deborah Howell (Host): Now I understand there are only a few hospitals in the West that offer a treatment for this. What makes your PCD clinic unique?

Dr Bugsu Ovunc: Just like you said, there are only a few, approved and accredited PCD centers. We like to call them in the entire United States. Very good information of all these, centers can be found at the PCD Foundation website. all the patients can see a map of all the PCD Foundation approved and accredited centers on a map, on the foundation website. As you mentioned, there are already very few centers in the United States. Unfortunately, the centers that are existing are more concentrated on the East coast.

On the west coast there are only three centers, and we are the third one. The second in California and the only one in the Southern California region. And the importance of a PCD center is, as I mentioned, PCD has many features, therefore not sent physicians is enough to diagnose, manage, or treat this disease. So an ear nose throat doctor and a pulmonologist at least needs to work very closely. First to diagnose the disease as well as how to manage the disease. Plus, as I mentioned, the PCD affect other organs such as, the heart.

So you also need a physician who understands the manifestations of PCD in the heart. We did not put much emphasis, but as I mentioned, those celai-like structures are also elsewhere in our body. So other manifestations that we can see with PCD will be, people can have increased brain fluid level, which can lead to neurological problems, hydrocephalus or headaches. People can have all sorts of cysts in their internal organ, including their liver, their kidney, their pancreas, also, Celia are the same part of the sperm that actually provides its movements. Therefore, PCD can manifest as infertility in the older children bearing population.

As well as women can have decreased fertility because the Celia are the same structures again, that, provides the egg to move from the ovaries to the uterus. So as you can see, there are multiple different signs and symptoms of PCD. Therefore, in the absence of a center, it's hard to find a complete team of physicians who knows what these are, how to put them together to make the diagnosis in the first place. The second thing is there are certain diagnostic tests that are needed, to diagnose PCD. And these are really special tests, again, which is hard to find in any pulmonary or ENT clinic Only. PCD Foundation approved and accredited sites will have all the diagnostic tools, to diagnose primary failure, dyskinesia.

And again, the diagnosis is the biggest part of the problem. This is why this disease is known to be very common, although the actual number of people. Recorded to live in United States is very low, so this is why the access of this diagnostic tool for the patient is very important to diagnose PCD and then hopefully treat PCD.

Deborah Howell (Host): Okay. Now, if you receive a PCD diagnosis, what are some of the things parents can do to support their child with PCD?

Dr Bugsu Ovunc: First of all, PCD leads to recurrent infections of the ears, sinuses, lungs. So the first and foremost thing that they can do is pull our regular hygiene, hand washing. If somebody is sick, don't let them around their children. But of course, we don't want these kids to live in bubbles. These are people with normal immunity, so they do not have an immune problem. It's because their airways are having difficulty getting rid of these irritant particles, that they're more prone to having an infection. Therefore, the most important thing after the hygiene is to get them vaccinated, because vaccinations are the preventable causes of infections.

Therefore, it'll significantly decrease the amount of infection that our patients get if they're fully vaccinated. And if they do get the infection, then they will have much less symptoms, leading to better outcomes, less antibiotic use, less amount of hospitalization, and it'll decrease the irreversible, end points for PCD.

Deborah Howell (Host): Now, why is it so important for regional children's hospitals like Memorial Care, Miller Children's and Women's to have these highly specialized pediatric services?

Dr Bugsu Ovunc: We are the only second center in California and the only one in the southern California region. Miller Children's Hospital is a smaller hospital, but it is special in a way because we have all subspecialty services for pediatrics. This is very important because the children are being treated, of the most experienced and most educated people in their specific fields. Therefore, although these diseases are rare, and, general pulmonologist, pediatrician, ear nose throat doctor. May have never seen a patient. We have seen hundreds of these patients before, so it's easier for us to call them in the first place, than we are experienced in how to diagnose them and how to treat them. So it will improve the patient outcomes significantly if they are followed at an experienced center like us.

Deborah Howell (Host): Absolutely. Dr. Ovunc, where can people go learn more about PCD?

Dr Bugsu Ovunc: PCD Foundation website is a really good place to start with, both for the patients and the providers. It has different tab that explains the diseases. in more everyday terms, for our patients as well as there's more complex and reference, based literature that is placed on the PCD Foundation website. Also American [inaudible] Society, which is our, biggest meeting group, for the Pulmonologist and critical care physicians in United States, they have patient information sheets that are available on their website as well, and, they can of course visit our center's website and get more information, from there as well.

Deborah Howell (Host): Great. Well, thank you so much Dr. Ovunc, for your time and your expertise today. We learned a lot. Very enlightening. Thanks so much for being with us.

Dr Bugsu Ovunc: Thank you so much for your time, and I hope everyone to stay healthy.

Deborah Howell (Host): For more information or to listen to a podcast of this show, please visit memorialcare.org. That's memorialcare.org/pulmonary. That's all for this time. I'm Deborah Howell. Have yourself a terrific day.