What is cystic fibrosis / mucoviscidosis?
What are the indications of CF?
It is very rare that the disease can be noticed in CF patients from the outside. Because of its similar symptoms, CF is often mistaken for asthma, bronchitis, whooping cough or celiac disease and treated inadequately for years. All newborns are tested for this congenital disease in Austria. If CF is suspected, it can be diagnosed with certainty through a sweat test in a CF hospital.
Children with CF often suffer from illnesses in their airways. They often cough as a result. The pancreas is also particularly affected: Due to digestive problems, CF patients often suffer from frequent diarrhea and are frequently underweight.
The diagnosis of “meconium ileus” (bowel obstruction) in newborns is also an indication of CF. Some children show changes in their livers as early as during the infant stage.
In the long term, additional CF symptoms may develop, such as diabetes or osteoporosis. However, the symptoms can also have various degrees of severity from patient to patient.
How is CF treated?
The therapy must be started after a preferably early diagnosis and maintained on a lifelong basis. Special breathing techniques, regular inhalations and appropriate physical exercise are designed to clean the lungs. Antibiotics are taken regularly, often with medicine that dilates the bronchi and liquefies the secretions. Due to the inadequate absorption of nutrients, a vitamin-rich and high-calorie diet as well as digestive aids are mandatory. It has been demonstrated that intensive medical care in specialized CF hospitals improves the prognosis.
How does this disease originate?
The genetic misinformation is on the long arm of both chromosomes 7, which causes the malformation of an important protein molecule that is responsible for the salt and water metabolism in many organs (CFTR protein). Of the currently known mutations (about 2000), many can be divided into classes according to the type of functional error in the CFTR protein (class I-VI).
The reduced salt and water concentration on the mucous membrane surfaces leads to the known formation of viscous liquid and secretions. This occurs in the bronchi, the passages of the pancreas and the bile ducts of the liver and can lead to an increasing destruction of these organs. In the lung, the viscous secretion is a breeding ground for pathogenic agents, such as bacteria, viruses or fungi.
What is the state of research?
The gene whose defective code causes CF was discovered in 1989. Unfortunately the clinical application of a genetic therapy is still at a research stage. In the most recent years of research, the above-mentioned CFTR protein molecule became a particular focus for therapeutic methods. It is encouraging that a therapy for the mutation in class II and III has already been developed, which significantly improves the function of this molecule as well as the clinical condition of the patients. Similar medications for other mutations are already undergoing clinical studies. These therapeutic methods are referred to as causal therapy.
In addition to causal therapeutic methods, there has been enormous progress in symptomatic therapies, which have resulted in a considerable improvement in the patients’ health and life expectancy, so that more than half of the CF patients in Austria are at an adult age.
It is often the case that the patients’ statistical life expectancy is named in numbers that shouldn’t be accepted indiscriminately. For doctors and researchers, statistics are an important dimension to check whether they are on the right path with the support and treatment of the affected persons. For that reason most European countries enter the data for CF patients in a register in an anonymous form. In the European register of the ECFS (European Cystic Fibrosis Society), the average lifespan of 40 years is shown in all of Europe for 2015, while countries with a mid-level or high social standard indicate a lifespan of 53 years. But this statistical number does not have great significance for individual children.
Digestion – diet
In most people with CF, the pancreas produces an insufficient amount of digestive enzymes. They have a so-called pancreas insufficiency. For that reason they must take pancreas enzyme compounds to aid their digestion. Enzymes are substances that make it possible to digest the nutrients protein, carbohydrates and especially fat so that these can be used as energy by the body. A stool test can determine whether a child needs these enzymes.
The diet of cystic fibrosis patients is an important part of the therapy from the outset. It is recommended that people with CF – compared to others of the same age and gender without CF – consume 120 to 150% of the recommended daily energy supply, where 40% of the energy should come from fats. Good weight development is associated with an improved pulmonary function and longer survival rate. The everyday challenge is to consume foods with the highest energy density in minimal serving sizes rather than eating more. This avoids the “need to stuff yourself”, a feeling of fullness and a defensive attitude towards food while reaching the energy goal.
Inhalation – respiratory physiotherapy
To clean the lung, an inhalation therapy followed by physiotherapy is completed twice a day no matter what – this is an important component in the treatment of cystic fibrosis. This refers to the application of different, individually adjusted techniques, which help remove the pathologically altered mucous and the bacteria breeding in it from the airways. It attempts to ensure a gas replacement in the lungs that is as interference-free as possible and minimizes the amount of bacteria in the lung. Additionally, these techniques help maintain or improve the function of the respiratory organs and pulmonary function. The physiotherapy is not just restricted to the treatment of acute lung changes but also sees itself playing a role in prevention.
The affected persons should receive optimal support during their therapies. At a time in which resources are shrinking, in terms of the human resources of the health care system as well as approval of the very expensive medication, a strong self-help group is indispensable. A close co-operation with the centers is also very desirable.
The further development of modulator therapy for all mutations is a source of great hope for the coming years, as is gene therapy, which also shows great results in the pre-clinical area. To ultimately really cure this illness, additional and intensive research and its support are absolutely mandatory.
Dr. Sabine Renner
CF Center Children’s Hospital, Vienna