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Cystic fibrosis is the most common genetic disease among white people. Every other day, out of 2500 healthy newborns, one child is born with cystic fibrosis. Every 25th Pole is a carrier of this disease.
I am talking to an expert about the diagnosis and treatment of cystic fibrosis: dr hab. n. med. prof. extra Dorota Sands from the Institute of Mother and Child in Warsaw.
— Professor, how long has the cause of cystic fibrosis been known to medicine?
– Since 1989, when scientists identified the gene responsible for this disease. Cystic fibrosis is caused by mutations in the CFTR gene. The disease is inherited in an autosomal recessive manner. Autosomal, that is, not related to the chromosomes responsible for the sex of the child – therefore it can occur in both genders. The mechanism of recessive inheritance means that two changes in the gene from both parents are needed for the disease to occur. If a child inherits only one lesion from its parents, it is a carrier but a healthy person. When two such people mate, their offspring will be sick.
Since the discovery of the defective gene, both the diagnosis and treatment of cystic fibrosis have changed a lot. At first, she was identified mainly on the basis of an autopsy. Children died in the first year of life not only from respiratory disease, but also from severe malnutrition. Today, we detect the disease immediately after birth thanks to screening tests, and thanks to more and more effective treatment, the average age of patients’ lives has increased significantly.
– Cystic fibrosis is considered a systemic disease. What does that mean exactly?
– It is a disease that can affect many systems and organs. Its symptoms are caused by a malfunctioning of the exocrine glands which produce e.g. sweat, mucus and digestive enzymes. The affected glands produce large amounts of thick, sticky mucus that clogs the airways, leading to respiratory failure and frequent infections. The disease can also affect the pancreas and liver, resulting in poor digestion and absorption. Sticky, thick mucus can also clog the bile ducts, and bile stasis can cause cirrhosis of the liver. Pancreatic exocrine insufficiency occurs in 85 percent of patients, cholelithiasis in 12 percent, fatty liver – in 20 percent, cirrhosis – 5 percent, focal biliary fibrosis – in 20 percent of patients with cystic fibrosis. Damage to the sweat glands results in the excretion of excessive amounts of sodium, chlorine and potassium with sweat. Therefore, when treating cystic fibrosis, we must consider symptoms from different systems.
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— As of July 1, 2009, cystic fibrosis was included in the newborn screening tests, along with phenylketonuria and hypothyroidism. What are the screening tests for this disease?
– A drop of blood is taken from the child, put on a tissue paper and the level of immunoreactive trypsin (IRT) is tested. Children with the highest scores undergo a molecular test (CFTR gene mutation test) followed by a sweat test, which in the case of cystic fibrosis shows elevated chloride values.
Earlier, when there were no screening tests, the doctor’s traces of this disease were primarily caused by meconium obstruction and the salty taste of the newborn’s sweat. In slightly older children, these symptoms were: recurrent wheezing, constant coughing up large amounts of mucus, repeated pneumonia, frequent passing of abundant fatty and foul-smelling stools. It is also characteristic of this disease that the child, despite a large appetite, gains weight poorly.
— How is cystic fibrosis treated?
– The therapy mainly concerns the respiratory system. It consists in systematic, daily patting of the patient, i.e. bronchial drainage, which facilitates the detachment of mucus in the respiratory tract. Systematic administration of inhaled mucolytic drugs is used to thin the secretions. Older children blow various devices to “activate” the secretions and have them removed. With thick mucus in the bronchi, bacterial infections and exacerbation of the patient’s condition can easily occur – then antibiotic therapy is necessary. Large doses of drugs are administered over a long period of time. Patients with more severe pancreatic symptoms take pancreatic enzymes from the outside. In the case of the hepatic form, which is much rarer, and it causes blockage of the bile ducts, it is also necessary to administer preparations thinning the secretion. When it comes to the digestive system, medicine can help effectively, while the progressive form of cystic fibrosis affects the respiratory system. Despite treatment, damage to the lungs and bronchi continues.
– What problems are still waiting to be solved?
– More severe infections require long-term antibiotic therapy and a long stay in the hospital, which creates an additional risk for the child in the form of further infections. Solitary confinement is not possible in most hospitals. It would be logical and cheaper to administer antibiotics to the sick at home, but it is impossible because the National Health Fund does not provide for financing such a procedure. Antibiotic therapy is reimbursed only in hospital conditions. For years we have been fighting to change these unfavorable regulations, so far to no avail.
Another problem is the lack of interdisciplinary clinics for patients with cystic fibrosis. At the moment, parents with their child go from specialist to specialist, from pulmonologist to gastroenterologist, then to physiotherapist and dietitian, getting only partial advice everywhere. Unfortunately, the National Health Fund does not provide for the functioning of such facilities. Although the Institute of Mother and Child runs a multi-specialist clinic for children suffering from cystic fibrosis, the contract with the National Health Fund provides for financing only medical advice. Meanwhile, such a team, consisting of several specialists, should be appointed in each region, because only in this way can a child or an elderly patient be treated with comprehensive treatment.
The burden on parents in this disease is very great. Most mothers have to stay home to make sure they are taking their medications, undergo physical therapy, and assist with one-to-one tuition. Many parents develop burnout syndrome after a certain period of illness, which can lead to depression. A great help for them would be coming to the home of a physiotherapist, as is the case in Western countries. In our clinic, physiotherapists are available only at the clinic, they teach parents how to properly deal with their children at home.
– Are drugs needed in cystic fibrosis reimbursed?
– There are, but not all of them. For example, if the parents decide not to treat their child in hospital, but is treated at home, they pay the full cost of antibiotics, usually administered over several weeks. The biggest problem we have is with high-calorie nutritional supplements that are essential in this disease. These are not cheap products, and there are also costs associated with groceries. Children suffering from cystic fibrosis have impaired absorption of nutrients, so they must be nourished very energetically, they need more protein and other nutrients. The inhaler is reimbursed by the National Health Fund once every 5 years. We tried to estimate the average cost of treating and maintaining a child suffering from cystic fibrosis – we got the sum of about PLN 2000. And yet there are families where more than one child is ill. The only thing that caregivers can count on is a symbolic nursing allowance of PLN 157. All of this has an impact on the life expectancy of the sick. In Poland, the average life of a person suffering from cystic fibrosis is approx. 30 years, in the world it is approx. 40 years. Of course, there are deviations from this average, both downwards and upwards.
– Lung transplant is a last resort therapy. What is the availability of this treatment in our country?
– We have had an impasse in this respect since last year. The demand for lung transplants in cystic fibrosis in Poland ranges from 10-15 operations per year. So far, we have sent our patients, who have been found justified in such a transplant, to Vienna on the basis of an agreement with Eurotransplant. It is an organization that obliges member states to cooperate – on the one hand, the patient can benefit from treatment in Vienna, and on the other – the country has to provide organs for transplantation and pay contributions. We do not have this possibility now, because Poland has not decided to join Eurotransplan. On the other hand, the Silesian Center for Heart Diseases in Zabrze was ready to perform such operations. Last year, both lungs were transplanted there to a 30-year-old patient with a severe form of cystic fibrosis. However, further lung transplants in Zabrze will only be possible after the construction of a new pavilion, because cystic fibrosis patients are often infected with resistant strains of bacteria and require additional isolation during their stay in the hospital. A suitable building for them will be ready in two years.
– For a long time, high hopes have been associated with gene therapy. When is this method of cystic fibrosis treatment likely to enter clinical practice?
– Unfortunately, gene therapy, which 20 years ago counted on the Nobel Prize, after unsuccessful attempts and deaths of patients, is still in the trial phase. There are problems with choosing the carrier to carry the correct gene into the body – harmless viruses used for this purpose are ineffective, the more dangerous ones, in turn, cause additional infections. Research on gene therapy is carried out by a large consortium in England, working with research centers in the US, but gene therapy had to take many steps backwards after unsuccessful attempts in the 90s. Clinical trials are currently ongoing. I have more hope in the various new drugs that have been developed with causal treatment in mind. Several dozen drugs are undergoing research, which will be able to prevent the effects of the damaged gene in the body in various ways by affecting the gene product, i.e. the protein. Poland takes part in clinical trials of new drugs. The United States is definitely the innovative driver in this research.
– After all, there is probably success in the treatment of cystic fibrosis?
– For sure. When we started describing cystic fibrosis some 50 years ago, sick children were dying in the first year of life. In 2012, we’re talking about causal treatment, but it’s still a therapy for the future. New drugs to correct the protein of the damaged gene are still under clinical trials, but the average survival rate of patients with cystic fibrosis has increased immeasurably. By simply improving symptomatic treatment, many people have been able to reach adulthood. There are currently more adults in Western countries than children with cystic fibrosis. This means that thanks to good multidisciplinary symptomatic treatment, we have achieved great success. The continuous improvement of the patients’ quality of life is related to the improvement of symptomatic drugs, better mucolytics, enzymes, more effective antibiotics, more intensive and modern physiotherapy, and more and more effective prophylaxis. Good inhalers deliver effective formulations directly to the places they need to reach. All this means that patients with cystic fibrosis more and more often reach adulthood. It is the result of improving those building blocks that make up a comprehensive multi-specialist treatment. That is why we care so much about the financing by the National Health Fund of multidisciplinary teams that would care for people with cystic fibrosis. I have worked in cystic fibrosis treatment centers in several places: in England, France, recently for a year in Belgium. Representatives of those medical circles were shocked by the information that in Poland the family has to do physical therapy every day. Medicines are available from us, maybe sometimes too expensive, but the daily effort of the patient’s family remains a problem. A person can afford a lot of effort like a spurt, but with chronic effort and stress, it burns out after some time. Our patients need a physiotherapist available at home, antibiotic therapy at home, and if the patient needs to be placed in a hospital – an isolation room. This would allow us to catch up with the life expectancy of people with cystic fibrosis in the West.
– Thank you, Professor, for the interview.