Cystic Fibrosis: An Overview
Guest: Dr. Patrick Flume - Pulmonary, Critical Care, Allergy & Sleep Medicine, MUSC
Host: Dr. Linda Austin – Psychiatry, MUSC
Dr. Linda Austin: I’m Dr. Linda Austin. I’m talking, today, with Dr. Patrick Flume, who is Professor of Pediatrics and Medicine as well as Director of the Cystic Fibrosis Center at the Medical University of South Carolina. Dr. Flume, let’s talk, in this podcast, generally, about cystic fibrosis, and just try to lay out an overview of that illness. A parent first hears that their infant has CF. How do you begin to explain to them what this illness is?
Dr. Patrick Flume: Well, cystic fibrosis is a genetic illness. And that means that they’re born with this problem. It’s not something that’s contagious or they contract later. Most of these patients, we’ll diagnose early in life, generally in the first year. And particularly now, we’re doing newborn screening for CF. So, most of the patients that we’ll identify are very young, so this becomes a brand new, very large diagnosis for the families to understand. So, we realize there is going to be a lot of education and we need to break them in slowly.
When the patients first come to the pediatric program, our pediatric pulmonologist will do a thorough evaluation, first trying to figure out the child’s clinical needs, and then begin the educational process. We tend to see those patients very frequently early on, because we know it’s going to take time to get the parents fully up to speed on what to expect, how to take care of their child.
Dr. Linda Austin: What are the classic symptoms of cystic fibrosis in a baby?
Dr. Patrick Flume: There are primarily two common manifestations. One is failure to thrive. These patients have pancreatic insufficiency, which means they don’t make digestive enzymes, and so they don’t digest their food. They’re not going to grow. The other most common manifestation is chronic recurrent pulmonary infections. So, when a child isn’t growing, having recurrent pulmonary symptoms, the pediatrician will then proceed with testing for cystic fibrosis.
Dr. Linda Austin: But, you mentioned that this is typically done, now, at the time of birth. Is that right?
Dr. Patrick Flume: We have started newborn screening. About 42 states have now introduced that into their usual newborn screening. So, from the heel stick, we get the blood and we can look at immunoreactive trypsinogen; a digestive enzyme which is elevated in the blood in children with CF. And, in those kids that have very high levels, we’ll then proceed to additional testing.
Dr. Linda Austin: So, you can make a pretty clear diagnosis?
Dr. Patrick Flume: Yes
Dr. Linda Austin: Now, you mentioned, right off the back, that this is a genetic illness. Typically, will the parents have had distant relatives, at least, with CF, or does it often come as kind of a total shock that this would run in their family?
Dr. Patrick Flume: Many will. It’s a recessive gene. So, you have to have two abnormal copies of the gene in order to have disease. So, in those families where there is a family history, for example, one child born with CF, obviously, we have a very strong suspicion and proceed with testing right away. But the gene frequency in the population is reasonably high. So, in the Caucasian population, with no family history, about one in 20 to one in 25 will be a carrier. So, in those couples, about one in 2,500 births will have cystic fibrosis.
Dr. Linda Austin: That is pretty common for an illness that is a significant illness. There have certainly been many advances in the treatment of the lung symptoms and in the pancreatic symptoms of cystic fibrosis. When a baby, or a young child, starts to manifest those symptoms, what are the treatment strategies that you use, now, to control the illness?
Dr. Patrick Flume: There are a number of therapies that have become common place in the care of these kids. And although we talk about CF as if everybody’s the same, we recognize that everyone’s a little bit different in terms of their illness, but also their resources. In terms of their lung disease, the symptoms that they develop are those of chronic lung infection. So, these kids will have excess mucus in their secretions. It’s infected. It’s an infection that’s very hard to get rid of, so they have a hard time clearing these secretions.
Every drop of sputum that these kids cough out contains millions of bacteria. So, if can get them to clear these secretions out, they can unload an awful lot of infection, and then inflammation. And it’s the inflammation that’s doing the damage to the lungs over the long haul. So, one of the most basic of therapies is what we call airway clearance. And the classic example you’ll see used in infants is percussion and postural drainage, where you’ll see the parents using cupped hands, beating on the child’s back or chest to help them move these secretions.
We use a fair amount of antibiotics, including aerosolized antibiotics, in the beginning to try to eradicate the infection. When that’s not possible, to at least suppress the infection. If they have exacerbations, their symptoms become worse. Then, we oftentimes will move to IV antibiotics to try to treat the infection. We use aerosolized medications to change the nature of these secretions, to thin them out, if you will, to make it easier to clear. One example would be Pulmozyme, an aerosolized enzyme, to break up the DNA that’s in those secretions. We use hypertonic saline; water that’s as salty as the ocean, to try to help mobilize these secretions. Of course, with the digestive problems, we put them on digestive enzymes. They need lots and lots of calories, so we have to ramp up their calories and monitor their nutritional status. We have to put them on vitamins. And there are a number of other therapies, depending on their problem.
Dr. Linda Austin: Now, how about treatment for the pancreatic problems?
Dr. Patrick Flume: Well, that’s where the digestive enzymes come into play. They don’t make their digestive enzymes, so we give them digestive enzymes in a capsule form. So, they have to take those with everything that they eat. If they don’t take their enzymes, they’ll have trouble; abdominal cramping and frequent trips to the bathroom, and they won’t gain weight. So, we give them those supplements. And we oftentimes give them medications to suppress the acid in their stomach to try to help with their digestion and other symptoms.
Dr. Linda Austin: I know that the prognosis for cystic fibrosis has really improved a lot over recent decades. What is the median lifespan, now, for someone with CF?
Dr. Patrick Flume: The median age of survival; predicted survival, in our current data is about 37 years of age.
Dr. Linda Austin: Meaning that half of all kids, right now, will live at least that long?
Dr. Patrick Flume: We’ll expect them to live even longer. And, to put that into perspective, when I started in this in 1990, the median age of survival was less than 25 years of age. And so, a child born today has a considerably better prognosis than a child born 15, 20 years ago. So, we’re not done, but it’s considerably better.
Dr. Linda Austin: And, what have been some of the most recent advances that have helped CF patients live longer, better lives?
Dr. Patrick Flume: The biggest advances are more potent antibiotics and better nutritional supplementation. So, we have a far more aggressive approach to antibiotic use than we ever had, including current studies trying to eradicate that first infection. So, we no longer wait for the child to become symptomatic. We start culturing their airways, really, from the time they’re born. Once they have a positive culture, we take more aggressive steps to try to eradicate that infection, and to delay the progression of chronic infection.
Dr. Linda Austin: I would imagine you have some real success stories at this point.
Dr. Patrick Flume: Yes, we do. We have seen success in a great many ways. Some are related to lung transplantation. When we’re able to have a person who is nearing the end of their life, very debilitated, undergo an operation, and now look seemingly normal, it’s very gratifying. The first patient that we put to transplant, while I was still at the University of North Carolina, was done in October of 1990. And I had the pleasure of speaking to him on the phone in just the last month. So, 17 years of life, so far, is really remarkable.
Dr. Linda Austin: Since transplant?
Dr. Patrick Flume: Since transplant. We have a very successful transition program here at MUSC. And when I talk about transition, I’m talking about moving kids from a pediatric clinic setting to an adult care setting. CF had traditionally been a pediatric disease. But, now, with nearly half the patients being of adult age, and the expectation that the majority will be adults, we need to move them into an age-appropriate care setting. And that has been very successful. Our pediatricians are very adept at preparing these kids for moving into the adult world. You see them take on independence. So, much like seeing your own kids grow up, it’s gratifying to see them take responsibility and thrive.
Dr. Linda Austin: Let’s talk about the adult clinic, then, in another podcast. Thank you very much.
Dr. Patrick Flume: Thank you.
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