Cystic fibrosis is a multi-organ disease that affects the quality of body secretions and fluids. The condition is especially problematic in the respiratory tract. Cystic fibrosis causes thick mucus to accumulate in the airways. People who have the condition are also more prone to infections.
The main goal of treatment regimens has been to keep the respiratory tract clear from secretions and prevent infections. The standard of care for treating cystic fibrosis respiratory disease calls for medications that keep the air passages open, make the mucus in the lungs more fluid, facilitate mucus clearance, and attack the infections present in the airways. However, for the most part, these treatments mainly target the symptoms and slow down the progression of the disease.
A second common problem for people with cystic fibrosis relates to their digestive tract. The condition causes blockages in the pancreas. In turn, this can lead to maldigestion, which means that the nutrients in food aren’t completely broken down and absorbed. It can also cause abdominal pains, difficulty gaining weight, and potential bowel obstructions. Pancreatic enzyme replacement therapy (PERT) treats most of these problems by improving the body’s ability to digest food. PERT also promotes good growth.
Recently developed treatments, called modulators as a class, restore the ability of cells to make the cystic fibrosis protein work to maintain normal levels of fluid in body secretions. This prevents the accumulation of mucus.
These medications are a significant advance in the treatment of cystic fibrosis. Unlike previous drugs, these medications do more than simply treat the symptoms of the condition. Modulators actually target the underlying disease mechanism of cystic fibrosis.
One significant advantage over previous treatments is that these medications are taken by mouth and work systemically. That means that other systems of the body, not only the respiratory and digestive tracts, can benefit from their effects.
Although these medications are effective, they have limits. Modulators only work for specific defects in the cystic fibrosis protein. That means they work well for some people who have cystic fibrosis, but not others.
Cystic fibrosis is an inherited genetic condition. For an individual to be affected, two defective, or “mutated,” cystic fibrosis genes have to be inherited, one from each parent. The cystic fibrosis gene provides the instructions for a protein called cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR protein is very important for cells in many organs to control the amount of salt and fluid that covers their surface.
In the respiratory tract, CFTR plays a key role. It helps create an effective defensive barrier in the lungs by making the surface moist and covered with thin mucus that’s easy to clear. But for those who have cystic fibrosis, the defense barrier in their respiratory tract is ineffective to protect them from infection, and their airway passages get clogged with thick mucus.
There is currently no cure for cystic fibrosis. However, new treatments aimed at the different defects that the gene can carry are proving to be beneficial.
People with cystic fibrosis take most respiratory treatments in an inhalation form. These medications can induce coughing, shortness of breath, chest discomfort, unpleasant taste, and other potential side effects.
Digestive treatments for cystic fibrosis may produce abdominal pains and discomfort, and constipation.
Cystic fibrosis modulator drugs can affect liver function. They can also interact with other medications. For this reason, people taking modulators need to have their liver function monitored.
People of any age who have cystic fibrosis are typically monitored closely to detect early changes in health status. This allows their care team to intervene before significant complications occur.
People with cystic fibrosis should learn how to watch for signs or symptoms of complications. That way, they can discuss potential changes to their treatment regimen with their care team right away. In addition, if a treatment isn’t providing the intended benefits or if it’s causing side effects, or other complications, it may be time to consider a change.
It’s also important to consider new treatments as they become available. People with cystic fibrosis may be eligible for newer modulator treatments, even if past medications weren’t an option. This should always be discussed in detail with a healthcare team. When someone is switching their cystic fibrosis medication, they need to be monitored closely for any changes in health status.
Today, most new cases of cystic fibrosis are identified early thanks to newborn screening. The needs of people who have cystic fibrosis change as they move from the newborn period to infancy, to childhood, to puberty, and ultimately to adulthood. Although the basic tenants of cystic fibrosis care are the same, there are some variations depending on an individual’s age.
In addition, cystic fibrosis is a disease that progresses with age. The disease progresses at a different pace from person to person. This means that treatment requirements change as people get older.
Treatment options change and need to be tailored based on the degree of disease progression and severity in an individual person. There is no fixed regimen that applies across the board. For some people with more advanced respiratory disease, the treatment regimen will be more intensive than it would be for people with less severe forms of the disease.
A more intensive treatment regimen may include more medications and treatments, with more frequent dosing. In addition, people with more advanced disease tend to have difficulties with other conditions, such as diabetes. This can make their treatment regimens more complex and challenging.
In general, people with cystic fibrosis are asked to follow a high-calorie, high-protein diet. That’s because cystic fibrosis can cause malabsorption of nutrients and increased metabolic demands. There is a well-recognized connection between nutritional status and respiratory disease progression. That’s why people with cystic fibrosis are monitored closely to ensure they are eating enough and growing.
There are no clear right and wrong foods for people who have cystic fibrosis. What is clear is that following a healthy diet — rich in calories, protein, vitamins, and micronutrients — is important to good health. People with cystic fibrosis often need to add specific nutritional preparations and supplements to their diet, depending on their individual needs and issues. That’s why an integral component of cystic fibrosis treatment is the nutritional regimen developed by a nutritionist and tailored to an individual’s and family’s needs and preferences.
Life expectancy for people with cystic fibrosis in the United States is now reaching 50 years. Great advances in life expectancy have happened because of decades of research and hard work at all levels.
We now understand that consistently applying best practices leads to substantial benefits for people with cystic fibrosis. It’s also very important for people to work in close partnership with their care team, and to follow their treatment regimen consistently. This maximizes the potential for benefit. It also helps the individual to have a better understanding of the effect of each intervention.
From an individual perspective, cystic fibrosis needs to be seen as a life journey. It requires the support and understanding from all those around the person affected. This starts with caregivers becoming well-educated about the disease and its effects. It’s important to be able to recognize early signs of complications and other issues.
Caregivers often find it challenging to adjust to the day-to-day changes that need to be made in order for an individual to follow their treatment regimen. One key to success is to find the right balance so that the treatment regimen becomes part of a daily routine. This allows for consistency.
A second important aspect is for caregivers to always be prepared for the changes that could come along with acute illness or disease progression. These issues lead to an increase in treatment demands. This is a difficult time and probably one when an individual with cystic fibrosis needs the most support and understanding.
Dr. Carlos Milla is a pediatric pulmonologist with international recognition as an expert in respiratory diseases in children, and in particular cystic fibrosis. Dr. Milla is a member of the faculty at Stanford University School of Medicine, where he was appointed professor of pediatrics. He was also named a Crandall endowed scholar in pediatric pulmonary medicine and serves as the current associate director for translational research at the Center for Excellence in Pulmonary Biology (CEPB) at Stanford University.