00:29:45
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[00:00:00] Prof. Mehmet Umut Akyol: Good afternoon Ladies and Gentlemen, my name is Umut Akyol. I am an otorhinolaryngologist from Ankara, the capital of my country. This is Turkey and I'm a professor in Hacettepe University Medical School. First of all I should be reading you a couple of points from the second slide of mine. Please do not take any screenshots or reproduce any slides without permission. The format is about 17- 19 minutes of my talk which will be about the ENT manifestations of mucopolysaccharidoses and of course at the end we shall have enough time for questions and answers.
[00:00:48] Prof. Mehmet Umut Akyol: So please submit your questions at any time, any point. You have to text them and I will read them and answer them if I can and whenever you need to ask anything please text it and ask a question. I will appreciate that very much. We are recording this webinar and it's going to be available as you can see on this address soon. So I told you that I am an ear, nose and throat surgeon and otorhinolaryngologist. Specifically I'm a pediatric ENT surgeon so I deal with pediatric patients all the time and as you can imagine most of them begin crying when they see me but there are some who see me as a five- star professor doctor and this is very proud of course of me and this is one of my best ever business cards made by a five- and- a- half- year- old young lady, a patient of mine. So as I told you I'll be talking about mucopolysaccharidosis and ear, nose and throat, otorhinolaryngological manifestations. Of course I'm not the one who will be talking about Mucopolysaccharidosis. I'm a surgeon, I'm a humble ENT surgeon and I'm not a specialist in metabolic disorders and there are much better colleagues of mine that can talk about this subject but we all know that mucopolysaccharidosis is a disease which is a malfunction of the enzymes that are metabolizing the glycosaminoglycans, the mucopolysaccharides, the old name which we're not using anymore. These glycosaminoglycans GAGs accumulate in the tissue and all over the body especially in the head and neck and around the nose and throat and causes some serious problems. When they accumulate around the ear and the stations, the peritubule areas, they cause the obstruction and serious ear problems, mainly frequent attacks of acute otitis media, fluid in the ear, otitis media with diffusion and hearing loss which we have to take care. And when they accumulate around the pharyngeal areas, tonsils, adenoids, they cause obstruction, frequent upper respiratory tract infections which eventually again need surgery. And not only of course the pharyngeal areas, these GAGs accumulate all around the airway, the lower parts too and cause some serious problems with the airway, again necessitating surgery which can be a very tricky point as we will see. And these are the kids who have frequent attacks of upper respiratory tract infections very early in their lifespan. They have acute otitis media as you can see here, otitis media with diffusion causing some hearing loss. They have frequent attacks of pharyngeal tonsillitis with enlarged tonsils and adenoid tissue that is obstructing the nasal passage and causing some obstruction. These are the kids who have frequent attacks of respiratory tract very early from their lifespan. This is our own data from my own department and as you can see more than half of these kids that we are following for MPS has already undergone ear, nose and throat surgery, TNA surgery, adenoselectomy or putting tubes in their eardrums and almost two- thirds of them have kind of hearing loss. Almost half of them has harsh voices because of the GAGs accumulate in their larynx, in their vocal folds and balance problems almost one- third and almost all of them had accumulation in their mucosa and submucosal tissues that we can see in endoscopy with dermatitis and enlarged supraglottic structures as we will see. And so why am I here? What an ENT surgeon can do about it? We are quite special about this situation because we are the ENT surgeons, we are the pediatric ENTs, we are the pediatricians that see these patients very early before they are diagnosed, and this is very important. We can help to diagnose these kids but, more important, diagnose them as early as possible, which is very important. And the second point is regarding the surgical treatment. We should be very careful because it's a dangerous area and that's what we're going to talk about a little bit more. In MPS in general, and Hunters type II especially, the difference of these kids are not, in general, not apparent at birth, but become noticeable after the first, second year of life and since the symptoms of very frequent upper respiratory tract infections, for example, are quite common among all infants, they are not likely to lead a doctor to make a diagnosis of MPS right away, but this is important. We should, you know, know what's wrong with these kids. Their appearances are different, as you will see here. There's a coarseness in the facial features, including a prominent forehead and nose with a flattened bridge and enlarged tongue obstructing the pharynx. And that's why- because all Hunters and MPS patients look alike and they are a little bit different from the rest of the kids- some patients' families, moms especially, were telling me that even from very early babyhood they were a little bit different. They were not like me or my husband or their brothers and sisters. They were a little bit different. So keep in mind that these coarse facial features is something that we should notice. And, more important, these are the kids, as you can see here, who have early, very early ear, nose, throat and head and neck manifestations, and the median age of the diagnosis is about three and a half- 3. 2 years, even in Europe, and much before at this age. They come to us with frequent otitis media, frequent acute tonsillitis. These are the kids who come to you every second week, whom you have to prescribe antibiotics because of bulging ears or draining ears and they have quite frequent attacks, more than usual, frequent attacks of upper respiratory tract infections. Plus, what is very important for Hunter's is they have abdominal hernia and if you can keep in your mind that frequent attacks of respiratory tract infections very early in their lifetime, plus hernia or history of hernia repairing surgery or history of ear, nose, throat surgery keep in mind that this can be a Hunter's kid, for example. And this is how we can diagnose these kids early, very early, because if we can diagnose these kids early enough, they will have a longer, healthier life, with a much better quality of life, of course, not only for themselves but for their families and for the society as well. That's why it's very important to diagnose them as early as possible and to control the disease, even if you cannot cure it. And we are the ones who can do it if we just know these couple of points, two points... about. And ENT examination shows the GAG accumulation all around the ENT. The otoscopy is more or less similar to the rest of the kids but most of the time you can see the bulging eardrum due to acute otitis media or otitis media with diffusion of the dowel drum. The nose is almost always narrow with enlarged turbinates. This is kind of obstructing the nasal passages. Throat, especially when the disease progresses, is very hard to see because of the enlarged tongue, as well as the tonsils and adenoid tissue and also the gums and the mandible and the teeth. That is growing and obstructing the entrance of the parents. They always have a short neck and limited movement of the jaw and the neck will improve by time by the progression of the disease that causes serious problems. Flexible endoscopy is a very useful tool for us that we use all the time with these kids whenever we see them for diagnosis, for progression, for follow up and this is a little baby. This is the endoscopy and the nasal passages, you see the enlarged tonsil, this is adenoid tissue as you can see filling the nasopharynx and obstructing the nose. This is whitish, the accumulation of GAG makes it other edematous. You see the larynx and the supraglottic tissues especially the arytenoids and aryepiglottic folds. The mucosa is here also swollen, it is whitish, the accumulation of the GAG is kind of obstructing the inlet of the larynx and this is the typical, and this is the eardrum as you can see, quite dull, whitish, not semi- transparent anymore and this shows the fluid in the ear and this is otitis media with diffusion and this causes of course hearing loss which is very important in a little baby and kids for all the cognitive behaviours that will be coming in time. And that's why we use flexible endoscopy all the time and because of this obstruction, because of this narrowing of the ear, nose and throat, all of these kids have a kind of obstructive sleep apnea. The obstructive sleep apnea is quite important in the rest of the kids but MPS patients are high risk patients for obstructive sleep apnea syndrome and they should be diagnosed earlier, they should be treated earlier and more than half, almost three- fourths of the kids have obstructive sleep apnea syndrome or the OSAS kids. We know that when a kid has obstructive sleep apnea syndrome the treatment is straightforward, surgery, adenotonsillectomy is efficient in most of the kids, 80 percent, but we should be keeping in mind that MPS patients are special and surgery can be a real catastrophe in these kids as you will see. We should be very careful about the surgical treatment. We should be putting tubes in these kids, doing adenotonsillectomies or any other kind of surgery, orthopedic surgery, neurosurgery, but these kids when they go to the theater, to the operating room, can be very dangerous because of high rates of complications and serious morbidity and mortality. And this is a very unfortunate patient of us who told us a lot about MPS patients and these complications and mortality in MPS patients due to surgery. She was a 10-year-old female patient, unfortunately with very advanced disease where all the morphological changes took place and obstruction everywhere, not only in head and neck area but craniofacial and vertebral anomalies, kyphosis, vertebral bodies all over and it's very low pulmonary function and she had critical, critical OSAS with very high rates of apnea index. So she was decided to have an adenotonsillectomy, in fact taken into the operating room, but a senior anesthesiologist at that time refused to put her into sleep. She said it's quite dangerous and we should do something else. Well they were sent, she was sent back to the ward and then wrong decisions followed each other. It got more and more serious with real obstruction. A month after the first attempt, the chief resident of us at that time took the same girl again into the operating room. They put her into sleep, did an adenotonsillectomy and as expected every single complication occurred, followed each other. They had to open a tracheotomy and put her into ICU, but unfortunately we lost her in the second postoperative day in the ICU and that really taught us a lot and made us think about that. And it is really very dangerous to keep an airway or open an airway in these kids during any surgery, let alone the pharyngeal or airway surgery and can you imagine a kid like this without an extension of the neck any millimetres or even try to open a tracheotomy in a kid like this with an incredible narrow space of neck or put a child like this into supine position. It's not possible at all. So once the disease progresses this is really, really dangerous even if you can intubate this kid. Can you see this trachea that is deviated, narrowed and you cannot extubate this kid. So peroperative and postoperative complications are very, very high, the rate of complications are very high on these patients so we should keep this in our mind. These are dangerous. That's why I'm calling them dangerous patients for us, not only for us, for the anesthesiology. And we have quite a dilemma. On one hand we should be operating these kids because they are the ones who are suffering a lot. They are the ones who have indications for any kind of operation. They are the ones, high risk ones, who need operation as soon as possible and on the other hand they are the ones that we don't want to operate because we know that they have high complication rates including serious morbidity and mortality rate and there should be a solution and what should be done. The point that we have reached, at least I have reached, and what I'm trying to do at the moment, and what I would advise you to do, is first, if you are going to operate on these kids, if you are going to do any kind of surgery, try to do it as soon as possible after the diagnosis, before the disease progresses and serious morphological changes took place and irreversible changes are there, because once this disease progression happens and this morphology changes and the airway narrows, it is really hard to do any kind of surgery. So if you have an indication, do not wait. Do the operation as soon as possible. And the most important point is, the second point, remember that this is a multidisciplinary team effort. Pre-op consultations with anesthesiology, ICU specialists, metabolic specialists, orthopedics, neurosurgery, pulmonology, all should be done in a team. The team must probably be led by a metabolic disorder specialist. And for me, the most important ones in the team are the anesthesiologists. You should have a very experienced anesthesiologist, what she knows, she's always doing, and in terms of complications, you should rely on them. And the second is ICU people, because these kids have to be taken to ICU after the operation. The perioperative and post- op complications are very important in this case so we have to keep them in a very well- ICU with experienced colleagues working there. And this is how we can deal with complications in my case. And let me repeat again the take- home messages that I want to give to you today. We are the ones who can diagnose these kids as early as possible, because we see them. We should keep in our mind the different course features of the face, that they have frequent attacks of upper respiratory tract infections very early in their lifespan, that they have other features like hernia or hernia surgery when they were little babies. We can keep this in our minds and diagnose them and help them and we can send them to metabolic disorders colleagues of us and the second thing is surgical treatment can be dangerous with high rates of complications on these kids. We should be operating them as early as possible if we have to, and in a team. If you do not have a good ICU, dependable colleagues on emergencies, I mean operating room theatres, anaesthesiologists especially, send them to a tertiary centre, do not do it alone. And thank you very much for your kind attention. This is another picture of my patients, this is me by the way. And now it is time for the questions and answers. You can still, you know, send your questions, text your questions, I'll be very happy to answer them if I can. And first of all I should be reading the questions. Okay, is endoscopy needed, frequent endoscopy is needed on these kids and what's kind of okay? As an ENT surgeon, as a pediatric ENT, I should be monitoring these kids area before and after the operation. And the easiest way to do is, the only way to do is this flexible endoscopy that I showed you. I do flexible endoscopy every time I see these kids, every time I see normal kids do. And it's an easy procedure, it doesn't need any kind of precautions, it can be done anywhere, it's only 30 seconds of your time and we can talk a lot about that, but flexible endoscopy for diagnosis and following up of these kids are very, very important. Let's see whether we have some more questions. Okay, when do these patients need hearing aids or do they need hearing aids? Well as I told you and as I have shown you, most of these kids have hearing loss.
[00:19:06] Prof. Mehmet Umut Akyol: In the early phases because of the fluid in the ear, effusion, and later in their lifespan most of them have sensorineural or mixed type hearing loss too and that's due to GAGs accumulating in the inner ear. And so they need a way to improve their hearing, that's why we put tubes, ventilation tubes on their eardrums. This is an easier procedure, this can be done under mask anesthesia as if the kid is not really advanced, doesn't have advanced disease and that's what we do it. And I prefer to put long- term tubes, not T- tubes, but larger type tubes on them for them to stay longer. And of course if the hearing gets worse and if the mixed or sensorineural type of hearing appears then they need hearing aids because they cannot hear, when they cannot hear everything goes much worse and they certainly need hearing aids, sometimes very early in their lifespan, the adult ones most of them need. Okay, let's take a look at other ventilation tubes. Yeah, I have already talked about that. I prefer the paparella type to large ventilation tubes. That will stay there for a quite longer time and this will help for them to hear much better for a longer time. Do these children have the same facial appearance at birth or their facial features become more evident while they are growing up? Meaning, can we diagnose the no at birth? This was the question. Sorry, unfortunately, as I told and as I have been talking during my talk, during the very early babyhoods they are more like same with the rest of the kids. Of course there can be, you know, differences, nuances are always there. Some are worse, some are much better. But if you are not really knowing what you are looking at, if you don't see much MPS patients and you may not notice. So that's why the median diagnosis time is more than three years of age. But if you know an MPS patient, if you know the features that I was talking about, you can catch them one years old, one and a half years old, six months old, and some parents they know that there is something wrong with the kid. They are different, but most of the time they don't want to confess them to themselves, even because they don't want their little kids to be ill and sick, and that's why knowing the disease, keeping in mind the features, is very important to diagnose these kids, unfortunately not possible at birth by just looking at them. Okay, let's see another question: what is the certain age for adenoidectomy and tonsillectomy? Very good question, no age limitation here. Whenever they need surgery, whenever there is an indication there is frequent attacks of adenotonsillitis- more than five in a year, or enlargement of the tonsils and adenoids that is causing sleeping disturbances and obstructive sleep apnea especially, they need to go under surgery. There's no age limitation for me. I can do it in six months old, a year old, three months old. I have done adenoidectomy on a six weeks old baby because he wasn't breathing at all, it was something else. But no, there is no age limitation. Whenever they have the indication, go on and do the surgery, and that's what I do. Okay, when is appropriate age to do adenoid surgery for a patient with? Oh, this is the same question, I'm so sorry, again, from another colleague of mine. Any time, if the indication is there, do the surgery. That's what I do. Are you aware of any algorithm based on signs and symptoms that will help us to diagnose MPS patients as early as possible. Well, the very simple one is the one that I told you about Hunter MPS II, is if you have a patient with frequent attacks of upper respiratory infections early, plus hernia- any kind of hernia or surgery or history of surgery- then go on and send this kid to a metabolic disease disorder colleagues of us so that they can test the kid and there is quite a good possibility of him or her having, you know, Hunter's, even him, even her. But other than that, different MPS patients have different features, of course, but in general, what I have been talking is more or less can be taken as an algorithm. If you sense something wrong in terms of the appearance, the points that we have been talking about, then it's a good reason for you to send these kids to screening. Screening may not be the right word, but I'm an ENT surgeon. I don't know about. You know, I'm not a metabolic disorder specialist, I'm not a pediatrician. Okay, the enzyme- replacement therapy change the course of severe obstruction problem that sometimes need tracheotomy. A very good question. I told you I'm not the one to answer this question. I am an ENT- surgeon, but it helps, yes. We cannot really talk about cure, especially in some forms there is no, in some forms we can control the disease. But controlling the disease, we have enough data now, I think the enzyme therapy, controlling the disease, help us, the nose and throat surgeons, to keep the kid without tracheotomy for a much longer time, sometimes without any tracheotomies. But this is a progressive disease. Some of them progress faster, some of them not as fast as the others, but if the disease progresses, we have to do it. And any kind of therapy that will, you know, stop this, we should try and again, I'm not the one who are treating these kids, who are treating these patients with enzyme replacement therapy, but I know that it helps. Of course, a better answer can be gotten from the metabolic disorders, pediatric metabolic disorders specialist friends of us.
[00:25:59] Prof. Mehmet Umut Akyol: After how many episodes of acute adenoiditis should we consider the surgical option in these children? The main thing regarding the adenoid tissue is the enlargement and obstruction. Most of them, when it is large enough to obstruct the back of the nose, they have chronic infection there too, with draining, post- nasal, the kids they are. And so the adenoiditis, the infections, of course, is important. Just like the pharyngotonsillitis, more than four or five attacks a year is an indication for me.
[00:26:36] Prof. Mehmet Umut Akyol: But 90%, 95% of the kids that we operate, the indication is not the infection itself alone, but the obstruction. So if they cannot breathe from their nose, if they have sleeping disorder, if they have apnea, this is an indication. I don't want to wait for attacks of infection if they are obstructed. Do you do tonsillectomy and adenoidectomy preventively when you know the diagnosis? No, I mean if I see an MPS patient without any sleep disorder or enlargement of the tonsils and adenoids, no frequent attacks of adenotonsillitis or no chronic discharge of back nasal drip, I don't do the operation. I do the operation when it is indicated. Indications were there, as I told you, frequent attacks, obstruction, of course many more, but these two are the main important indications for us to operate the kid adenotonsillectomy. If they do not have any indication, no, I won't go and operate them.
[00:27:47] Prof. Mehmet Umut Akyol: But if they have the indication, I do not want to wait for a couple of more months using some topical steroids or more antibiotics. If I have the indication, I will go on and operate them as soon as possible before the disease progresses. That was a good question. Thank you. And another question that we see, does, is the difference between intubation of children treated with ERT and without ERT? If the disease has already progressed and morphological changes, irreversible changes took place, no, whether they are under ERT treatment or not, the airway is dangerous, it's very hard to intubate and harder to extubate.
[00:28:38] Prof. Mehmet Umut Akyol: And that's why, I mean, I'm telling you that don't wait for the disease to progress into irreversible phases where the morphological changes all over the airway and is there and will be there without any returning. And that's why we have to catch these kids as early as possible, begin treating them as early as possible so that we can take care of them more easily without any complications. But after that, no. Okay. Are there any more questions? Let me see. No more questions. Okay. And I think this is, thank you very much again for listening to me.
[00:29:22] Prof. Mehmet Umut Akyol: If you need to reach me, you have my email address here and I'll be very happy to answer any questions. Thank you very much for listening to me this afternoon and I wish you a very, very good day. I'm closing the session now. Our webinar is ended. Thanks again. Bye-bye.